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Factor IX: Biochemistry and Clinical Significance

At a Glance

Title: Factor IX: Biochemistry and Clinical Significance

Total Categories: 6

Category Stats

  • Factor IX: Fundamental Properties and Function: 5 flashcards, 10 questions
  • The Coagulation Cascade: Factor IX Activation and Regulation: 6 flashcards, 11 questions
  • Genetics, Inheritance, and Molecular Structure: 12 flashcards, 19 questions
  • Clinical Implications: Deficiency and Aberrant Activity: 5 flashcards, 7 questions
  • Biochemical Classification and Databases: 15 flashcards, 20 questions
  • Therapeutic Strategies and Research Advances: 9 flashcards, 12 questions

Total Stats

  • Total Flashcards: 52
  • True/False Questions: 51
  • Multiple Choice Questions: 28
  • Total Questions: 79

Instructions

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Welcome to Your Curriculum Command Center

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The Core Concept: What is a "Kit"?

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⚙️ Kit Manager: Your Kit's Identity

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Study Guide: Factor IX: Biochemistry and Clinical Significance

Study Guide: Factor IX: Biochemistry and Clinical Significance

Factor IX: Fundamental Properties and Function

Factor IX, also known as Christmas factor, is a protein that functions as a serine protease and is essential for blood coagulation.

Answer: True

Factor IX is a protein that functions as a serine protease and plays a critical role in the blood coagulation cascade, which is essential for hemostasis.

Related Concepts:

  • What is Factor IX and what is its primary role in the body?: Factor IX, also known by its alternative name Christmas factor, is a protein that functions as a serine protease. It plays a critical role in the blood coagulation cascade, which is the process that leads to the formation of a blood clot. Its deficiency is the cause of hemophilia B.

Factor IX was named Christmas factor after the scientist who discovered it, Dr. Stephen Christmas.

Answer: False

Factor IX is known as Christmas factor because it was first identified in a patient named Stephen Christmas, not after the scientist who discovered it.

Related Concepts:

  • What is the common name for Factor IX, and why was it given this name?: Factor IX is also known as Christmas factor. It received this name because it was discovered in 1952 in a young boy named Stephen Christmas, who was found to have hemophilia due to a deficiency in this specific clotting factor.

Factor IX is primarily found within the nucleus and mitochondria of cells.

Answer: False

Factor IX is primarily synthesized in the liver and secreted into the bloodstream, functioning extracellularly within the coagulation cascade. It is not predominantly localized to the nucleus or mitochondria.

Related Concepts:

  • In which cellular components is Factor IX found?: Factor IX has been localized to various cellular components, including the endoplasmic reticulum lumen, Golgi lumen, plasma membrane, extracellular exosomes, extracellular space, and the collagen-containing extracellular matrix.
  • What biological processes is Factor IX involved in?: Factor IX is involved in several biological processes, most notably hemostasis and blood coagulation, including the intrinsic pathway of blood coagulation. It also plays a role in zymogen activation, signal peptide processing, and peptidyl-glutamic acid carboxylation.

Factor IX is involved in biological processes such as hemostasis and blood coagulation.

Answer: True

Hemostasis and blood coagulation are the principal biological processes in which Factor IX plays a vital role as a key component of the coagulation cascade.

Related Concepts:

  • What biological processes is Factor IX involved in?: Factor IX is involved in several biological processes, most notably hemostasis and blood coagulation, including the intrinsic pathway of blood coagulation. It also plays a role in zymogen activation, signal peptide processing, and peptidyl-glutamic acid carboxylation.
  • What is Factor IX and what is its primary role in the body?: Factor IX, also known by its alternative name Christmas factor, is a protein that functions as a serine protease. It plays a critical role in the blood coagulation cascade, which is the process that leads to the formation of a blood clot. Its deficiency is the cause of hemophilia B.

Being a serine protease means Factor IX utilizes a cysteine residue in its active site for catalysis.

Answer: False

Serine proteases, by definition, utilize a serine residue within their catalytic triad for enzymatic activity. Cysteine proteases utilize a cysteine residue.

Related Concepts:

  • What is the significance of Factor IX being a serine protease?: Being a serine protease means that Factor IX contains a serine residue in its active site, which is essential for its catalytic activity in cleaving other proteins. This enzymatic function is critical for its role in the blood coagulation cascade.
  • What is the MEROPS database classification for Factor IX?: According to the MEROPS database, Factor IX is classified under S01.214, indicating its role as a serine protease.

The alternative name for Factor IX, Christmas factor, originates from the location where it was discovered.

Answer: False

The name 'Christmas factor' derives from the surname of the first patient identified with a deficiency in this clotting factor, not from a geographical location.

Related Concepts:

  • What is the common name for Factor IX, and why was it given this name?: Factor IX is also known as Christmas factor. It received this name because it was discovered in 1952 in a young boy named Stephen Christmas, who was found to have hemophilia due to a deficiency in this specific clotting factor.

Factor IX is involved in signal peptide processing.

Answer: True

Factor IX participates in biological processes including signal peptide processing, which is integral to its synthesis and secretion pathway.

Related Concepts:

  • What biological processes is Factor IX involved in?: Factor IX is involved in several biological processes, most notably hemostasis and blood coagulation, including the intrinsic pathway of blood coagulation. It also plays a role in zymogen activation, signal peptide processing, and peptidyl-glutamic acid carboxylation.

What is the primary role of Factor IX in the human body?

Answer: Acting as a serine protease in the blood coagulation cascade.

Factor IX functions as a serine protease, playing a crucial role in the intrinsic pathway of the blood coagulation cascade, which ultimately leads to the formation of a stable fibrin clot.

Related Concepts:

  • What biological processes is Factor IX involved in?: Factor IX is involved in several biological processes, most notably hemostasis and blood coagulation, including the intrinsic pathway of blood coagulation. It also plays a role in zymogen activation, signal peptide processing, and peptidyl-glutamic acid carboxylation.
  • What are the molecular functions attributed to Factor IX according to Gene Ontology?: According to Gene Ontology, Factor IX exhibits several molecular functions, including endopeptidase activity, hydrolase activity, metal ion binding (specifically calcium ion binding), protein binding, and peptidase activity, particularly serine-type endopeptidase activity.
  • What is Factor IX and what is its primary role in the body?: Factor IX, also known by its alternative name Christmas factor, is a protein that functions as a serine protease. It plays a critical role in the blood coagulation cascade, which is the process that leads to the formation of a blood clot. Its deficiency is the cause of hemophilia B.

Why is Factor IX also known as Christmas factor?

Answer: It was first identified in a patient named Stephen Christmas.

The designation 'Christmas factor' originates from the surname of the first patient in whom a deficiency of this clotting factor was identified.

Related Concepts:

  • What is the common name for Factor IX, and why was it given this name?: Factor IX is also known as Christmas factor. It received this name because it was discovered in 1952 in a young boy named Stephen Christmas, who was found to have hemophilia due to a deficiency in this specific clotting factor.
  • What is Factor IX and what is its primary role in the body?: Factor IX, also known by its alternative name Christmas factor, is a protein that functions as a serine protease. It plays a critical role in the blood coagulation cascade, which is the process that leads to the formation of a blood clot. Its deficiency is the cause of hemophilia B.
  • What medical condition is caused by a deficiency in Factor IX?: A deficiency in Factor IX leads to a bleeding disorder known as hemophilia B, also referred to as Christmas disease. This condition is characterized by impaired blood clotting, which can result in excessive bleeding after injuries or surgery, and spontaneous bleeding into joints and muscles.

In which cellular component is Factor IX primarily localized, according to the source?

Answer: Extracellular space

Factor IX functions primarily in the extracellular space as a component of the blood coagulation cascade, although its synthesis occurs intracellularly before secretion.

Related Concepts:

  • In which cellular components is Factor IX found?: Factor IX has been localized to various cellular components, including the endoplasmic reticulum lumen, Golgi lumen, plasma membrane, extracellular exosomes, extracellular space, and the collagen-containing extracellular matrix.
  • What biological processes is Factor IX involved in?: Factor IX is involved in several biological processes, most notably hemostasis and blood coagulation, including the intrinsic pathway of blood coagulation. It also plays a role in zymogen activation, signal peptide processing, and peptidyl-glutamic acid carboxylation.

The Coagulation Cascade: Factor IX Activation and Regulation

Factor IX is synthesized in the body in its active form, Factor IXa, directly upon translation.

Answer: False

Factor IX is synthesized as an inactive precursor known as a zymogen (Factor IX). It requires post-translational modifications and subsequent enzymatic cleavage to become activated into its functional form, Factor IXa.

Related Concepts:

  • How is Factor IX produced and what is its initial state?: Factor IX is synthesized in the body as a zymogen, which is an inactive precursor form of an enzyme. Before it can become active, it undergoes several modifications, including the removal of a signal peptide and glycosylation.

Factor IX can only be activated by Factor XIa, which is part of the intrinsic pathway of coagulation.

Answer: False

Factor IX can be activated by both Factor XIa (intrinsic pathway) and Factor VIIa (extrinsic pathway), indicating its central role in integrating different coagulation pathways.

Related Concepts:

  • What are the specific pathways and factors involved in the activation of Factor IX?: Factor IX is activated into its functional form, Factor IXa, through cleavage by either Factor XIa, which is part of the contact pathway (intrinsic pathway), or Factor VIIa, which is part of the tissue factor pathway (extrinsic pathway). This activation process converts the inactive zymogen into its active, two-chain form, linked by a disulfide bridge.

Once activated to Factor IXa, it requires Factor VIII as a cofactor to form a complex that activates Factor X.

Answer: True

Activated Factor IX (Factor IXa), in conjunction with its cofactor Factor VIII, forms a complex on phospholipid surfaces that significantly enhances the activation of Factor X.

Related Concepts:

  • What are the specific pathways and factors involved in the activation of Factor IX?: Factor IX is activated into its functional form, Factor IXa, through cleavage by either Factor XIa, which is part of the contact pathway (intrinsic pathway), or Factor VIIa, which is part of the tissue factor pathway (extrinsic pathway). This activation process converts the inactive zymogen into its active, two-chain form, linked by a disulfide bridge.
  • What is the role of Factor VIII in relation to Factor IX?: Factor VIII acts as a cofactor for Factor IXa. In the presence of calcium ions and phospholipids, Factor VIII enhances the enzymatic activity of Factor IXa, allowing it to efficiently cleave Factor X.

Antithrombin is a substance that promotes the activity of Factor IX.

Answer: False

Antithrombin functions as a natural anticoagulant by inhibiting the activity of several coagulation factors, including Factor IXa, thereby preventing excessive clot formation.

Related Concepts:

  • Which substance inhibits the activity of Factor IX?: Factor IX activity is inhibited by Antithrombin. Antithrombin is a protein that plays a key role in regulating the coagulation cascade by neutralizing active clotting factors, including Factor IXa.

Factor VIII acts as a substrate for Factor IXa in the coagulation cascade.

Answer: False

Factor VIII functions as a cofactor for Factor IXa, enhancing its enzymatic activity. Factor X is the primary substrate activated by the Factor IXa-Factor VIII complex.

Related Concepts:

  • What biological processes is Factor IX involved in?: Factor IX is involved in several biological processes, most notably hemostasis and blood coagulation, including the intrinsic pathway of blood coagulation. It also plays a role in zymogen activation, signal peptide processing, and peptidyl-glutamic acid carboxylation.
  • What is the role of Factor VIII in relation to Factor IX?: Factor VIII acts as a cofactor for Factor IXa. In the presence of calcium ions and phospholipids, Factor VIII enhances the enzymatic activity of Factor IXa, allowing it to efficiently cleave Factor X.

The term 'zymogen' implies that Factor IX is produced in an active enzymatic form.

Answer: False

A zymogen is an inactive precursor form of an enzyme. Factor IX is synthesized as a zymogen and requires proteolytic cleavage to become enzymatically active.

Related Concepts:

  • What does the term 'zymogen' mean in the context of Factor IX production?: When Factor IX is described as a zymogen, it means it is produced in an inactive precursor form. This inactive state is a safety mechanism, preventing premature activation of the clotting cascade, and it requires specific enzymatic cleavage to become active.

Factor IX's role in activating Factor X is facilitated by calcium ions and membrane phospholipids.

Answer: True

The activation of Factor X by the Factor IXa-Factor VIII complex is critically dependent on the presence of calcium ions and membrane phospholipids, which provide a surface for complex assembly and function.

Related Concepts:

  • What is the role of Factor VIII in relation to Factor IX?: Factor VIII acts as a cofactor for Factor IXa. In the presence of calcium ions and phospholipids, Factor VIII enhances the enzymatic activity of Factor IXa, allowing it to efficiently cleave Factor X.
  • What is the function of the Gla domain in Factor IX?: The Gla (gamma-carboxyglutamic acid) domain, located at the N-terminus of Factor IX, is crucial for its function as it is responsible for the calcium (Ca(II))-dependent binding to phospholipid surfaces, such as those found on activated platelets.

How is Factor IX initially synthesized within the body?

Answer: As a zymogen, which is an inactive precursor.

Factor IX is synthesized in the liver as an inactive zymogen precursor. It undergoes post-translational modifications and subsequent activation steps to become functional.

Related Concepts:

  • How is Factor IX produced and what is its initial state?: Factor IX is synthesized in the body as a zymogen, which is an inactive precursor form of an enzyme. Before it can become active, it undergoes several modifications, including the removal of a signal peptide and glycosylation.
  • What are the specific pathways and factors involved in the activation of Factor IX?: Factor IX is activated into its functional form, Factor IXa, through cleavage by either Factor XIa, which is part of the contact pathway (intrinsic pathway), or Factor VIIa, which is part of the tissue factor pathway (extrinsic pathway). This activation process converts the inactive zymogen into its active, two-chain form, linked by a disulfide bridge.
  • What biological processes is Factor IX involved in?: Factor IX is involved in several biological processes, most notably hemostasis and blood coagulation, including the intrinsic pathway of blood coagulation. It also plays a role in zymogen activation, signal peptide processing, and peptidyl-glutamic acid carboxylation.

Factor IX can be activated into its functional form, Factor IXa, by which of the following factors?

Answer: Factor XIa and Factor VIIa

Factor IX can be activated by cleavage by Factor XIa (intrinsic pathway) or Factor VIIa (extrinsic pathway), demonstrating its integration into multiple coagulation routes.

Related Concepts:

  • What are the specific pathways and factors involved in the activation of Factor IX?: Factor IX is activated into its functional form, Factor IXa, through cleavage by either Factor XIa, which is part of the contact pathway (intrinsic pathway), or Factor VIIa, which is part of the tissue factor pathway (extrinsic pathway). This activation process converts the inactive zymogen into its active, two-chain form, linked by a disulfide bridge.
  • What biological processes is Factor IX involved in?: Factor IX is involved in several biological processes, most notably hemostasis and blood coagulation, including the intrinsic pathway of blood coagulation. It also plays a role in zymogen activation, signal peptide processing, and peptidyl-glutamic acid carboxylation.
  • What is the role of Factor VIII in relation to Factor IX?: Factor VIII acts as a cofactor for Factor IXa. In the presence of calcium ions and phospholipids, Factor VIII enhances the enzymatic activity of Factor IXa, allowing it to efficiently cleave Factor X.

What is the role of Factor VIII in conjunction with Factor IXa?

Answer: Factor VIII serves as a cofactor to enhance the activation of Factor X by Factor IXa.

Factor VIII acts as an essential cofactor for Factor IXa. Together, they form a complex that significantly amplifies the activation of Factor X, a critical step in the coagulation cascade.

Related Concepts:

  • What is the role of Factor VIII in relation to Factor IX?: Factor VIII acts as a cofactor for Factor IXa. In the presence of calcium ions and phospholipids, Factor VIII enhances the enzymatic activity of Factor IXa, allowing it to efficiently cleave Factor X.
  • What biological processes is Factor IX involved in?: Factor IX is involved in several biological processes, most notably hemostasis and blood coagulation, including the intrinsic pathway of blood coagulation. It also plays a role in zymogen activation, signal peptide processing, and peptidyl-glutamic acid carboxylation.
  • What are the specific pathways and factors involved in the activation of Factor IX?: Factor IX is activated into its functional form, Factor IXa, through cleavage by either Factor XIa, which is part of the contact pathway (intrinsic pathway), or Factor VIIa, which is part of the tissue factor pathway (extrinsic pathway). This activation process converts the inactive zymogen into its active, two-chain form, linked by a disulfide bridge.

Which protein acts as an inhibitor of Factor IX activity?

Answer: Antithrombin

Antithrombin is a key physiological inhibitor of coagulation factors, including Factor IXa, playing a vital role in regulating the clotting process and preventing thrombosis.

Related Concepts:

  • Which substance inhibits the activity of Factor IX?: Factor IX activity is inhibited by Antithrombin. Antithrombin is a protein that plays a key role in regulating the coagulation cascade by neutralizing active clotting factors, including Factor IXa.
  • What is Factor IX and what is its primary role in the body?: Factor IX, also known by its alternative name Christmas factor, is a protein that functions as a serine protease. It plays a critical role in the blood coagulation cascade, which is the process that leads to the formation of a blood clot. Its deficiency is the cause of hemophilia B.
  • What are the molecular functions attributed to Factor IX according to Gene Ontology?: According to Gene Ontology, Factor IX exhibits several molecular functions, including endopeptidase activity, hydrolase activity, metal ion binding (specifically calcium ion binding), protein binding, and peptidase activity, particularly serine-type endopeptidase activity.

Genetics, Inheritance, and Molecular Structure

Factor IX expression levels have been observed to decrease with age in both humans and mice.

Answer: False

Research indicates that Factor IX expression levels may increase with age in certain contexts, rather than decrease. The regulatory mechanisms are complex and subject to ongoing investigation.

Related Concepts:

  • How does the expression of Factor IX change with age?: The expression of Factor IX has been observed to increase with age in both humans and mice. Studies using mouse models have indicated that mutations within the promoter region of the factor IX gene can lead to age-dependent phenotypes, suggesting a complex regulatory mechanism tied to aging.

The Factor IX protein consists of four main structural domains: Gla, two EGF-like domains, and a trypsin-like peptidase domain.

Answer: True

The mature Factor IX protein is structurally characterized by an N-terminal Gla domain, two tandem EGF (Epidermal Growth Factor)-like domains, and a C-terminal trypsin-like peptidase domain.

Related Concepts:

  • What are the four main protein domains that constitute Factor IX?: The Factor IX protein is structurally composed of four distinct protein domains. These include an N-terminal Gla domain, two tandem copies of an EGF (Epidermal Growth Factor)-like domain, and a C-terminal trypsin-like peptidase domain.

The N-terminal Gla domain of Factor IX is primarily involved in binding to tissue factor.

Answer: False

The N-terminal Gla domain is crucial for calcium-dependent binding to phospholipid surfaces. Binding to tissue factor is primarily mediated by the EGF-like domains.

Related Concepts:

  • Which specific domains of Factor IX are involved in binding to other molecules?: The N-terminal EGF-like domain of Factor IX is implicated in binding to tissue factor. Furthermore, residues within the second EGF domain (specifically residues 88 to 109) have been identified as mediating the binding to platelets and facilitating the assembly of the factor X activating complex.
  • What is the function of the Gla domain in Factor IX?: The Gla (gamma-carboxyglutamic acid) domain, located at the N-terminus of Factor IX, is crucial for its function as it is responsible for the calcium (Ca(II))-dependent binding to phospholipid surfaces, such as those found on activated platelets.

The Gla domain of Factor IX is essential for its calcium-dependent binding to phospholipid surfaces.

Answer: True

The gamma-carboxyglutamic acid (Gla) domain is post-translationally modified and is critical for mediating the calcium-dependent interaction of Factor IX with negatively charged phospholipid membranes, such as those found on activated platelets.

Related Concepts:

  • What is the function of the Gla domain in Factor IX?: The Gla (gamma-carboxyglutamic acid) domain, located at the N-terminus of Factor IX, is crucial for its function as it is responsible for the calcium (Ca(II))-dependent binding to phospholipid surfaces, such as those found on activated platelets.

The gene responsible for Factor IX, F9, is located on the Y chromosome.

Answer: False

The F9 gene, which encodes Factor IX, is located on the X chromosome, not the Y chromosome.

Related Concepts:

  • Where is the gene for Factor IX located in the human genome?: The gene responsible for producing Factor IX, known as F9, is located on the X chromosome in humans. Specifically, its locus is identified as Xq27.1-q27.2.

Factor IX deficiency is considered an X-linked recessive disorder because the F9 gene is on the X chromosome.

Answer: True

The X-linked recessive inheritance pattern of Factor IX deficiency arises because the F9 gene is located on the X chromosome. Males, possessing only one X chromosome, are more susceptible to expressing the disorder if they inherit a mutation.

Related Concepts:

  • Why is Factor IX deficiency considered an X-linked recessive disorder?: Factor IX deficiency is classified as X-linked recessive because the F9 gene is located on the X chromosome. This means that males, who have only one X chromosome, are more likely to exhibit symptoms if they inherit a mutated gene, as they lack a second, functional copy. Females, with two X chromosomes, are less frequently affected as they can have one normal copy.

The C-terminal trypsin-like peptidase domain of Factor IX is the catalytic domain, responsible for enzymatic cleavage.

Answer: True

The trypsin-like peptidase domain constitutes the catalytic core of Factor IX, enabling it to cleave specific peptide bonds in substrate molecules during the coagulation cascade.

Related Concepts:

  • What is the function of the trypsin-like peptidase domain in Factor IX?: The C-terminal trypsin-like peptidase domain of Factor IX is the catalytic domain. It is responsible for carrying out the enzymatic cleavage of specific bonds in other proteins, a key step in the coagulation cascade, particularly in activating Factor X.

The F9 gene is located on the X chromosome at band Xq27.1 in humans.

Answer: True

The human F9 gene, responsible for Factor IX synthesis, is precisely mapped to the X chromosome at band Xq27.1.

Related Concepts:

  • What is the chromosomal band location of the F9 gene in humans?: In humans, the F9 gene is located on the X chromosome at band Xq27.1.

The human F9 gene spans approximately 32 kilobases on the X chromosome.

Answer: True

The genomic sequence of the human F9 gene spans approximately 32 kilobases on the X chromosome, encompassing its exons and introns.

Related Concepts:

  • What are the start and end base pair positions for the F9 gene on the human X chromosome?: On the human X chromosome, the F9 gene spans from base pair 139,530,739 to 139,563,459, according to the GRCh38 Ensembl release 89.

The orthologous F9 gene in mice is located on chromosome 1.

Answer: False

The orthologous F9 gene in mice is located on the X chromosome, similar to its human counterpart, not on chromosome 1.

Related Concepts:

  • Where is the orthologous F9 gene located in mice?: In mice, the F9 gene is located on the X chromosome at band X A6 or X 33.5 cM. The specific base pair range is from 59,044,824 to 59,076,119 on chromosome X, according to the GRCm38 Ensembl release 89.

The F9 gene spans from base pair 59,044,824 to 59,076,119 on chromosome X in mice.

Answer: True

According to genomic databases, the mouse F9 gene is located on chromosome X within the specified base pair range.

Related Concepts:

  • Where is the orthologous F9 gene located in mice?: In mice, the F9 gene is located on the X chromosome at band X A6 or X 33.5 cM. The specific base pair range is from 59,044,824 to 59,076,119 on chromosome X, according to the GRCm38 Ensembl release 89.

Factor IX deficiency is more commonly diagnosed in females than males due to its X-linked recessive nature.

Answer: False

Due to the X-linked recessive inheritance pattern, Factor IX deficiency is diagnosed significantly more frequently in males than in females.

Related Concepts:

  • Why is Factor IX deficiency considered an X-linked recessive disorder?: Factor IX deficiency is classified as X-linked recessive because the F9 gene is located on the X chromosome. This means that males, who have only one X chromosome, are more likely to exhibit symptoms if they inherit a mutated gene, as they lack a second, functional copy. Females, with two X chromosomes, are less frequently affected as they can have one normal copy.
  • What medical condition is caused by a deficiency in Factor IX?: A deficiency in Factor IX leads to a bleeding disorder known as hemophilia B, also referred to as Christmas disease. This condition is characterized by impaired blood clotting, which can result in excessive bleeding after injuries or surgery, and spontaneous bleeding into joints and muscles.

Which of the following is NOT one of the four main protein domains of Factor IX?

Answer: Kringle domain

The Factor IX protein structure comprises a Gla domain, two EGF-like domains, and a trypsin-like peptidase domain. Kringle domains are found in other proteins, such as Factor XIII, but not in Factor IX.

Related Concepts:

  • What are the four main protein domains that constitute Factor IX?: The Factor IX protein is structurally composed of four distinct protein domains. These include an N-terminal Gla domain, two tandem copies of an EGF (Epidermal Growth Factor)-like domain, and a C-terminal trypsin-like peptidase domain.
  • What are the molecular functions attributed to Factor IX according to Gene Ontology?: According to Gene Ontology, Factor IX exhibits several molecular functions, including endopeptidase activity, hydrolase activity, metal ion binding (specifically calcium ion binding), protein binding, and peptidase activity, particularly serine-type endopeptidase activity.
  • Which specific domains of Factor IX are involved in binding to other molecules?: The N-terminal EGF-like domain of Factor IX is implicated in binding to tissue factor. Furthermore, residues within the second EGF domain (specifically residues 88 to 109) have been identified as mediating the binding to platelets and facilitating the assembly of the factor X activating complex.

The N-terminal EGF-like domain of Factor IX is primarily associated with binding to which molecule?

Answer: Tissue factor

The EGF-like domains of Factor IX are implicated in interactions with tissue factor, which plays a role in the extrinsic pathway of coagulation, and also in mediating interactions with platelets.

Related Concepts:

  • Which specific domains of Factor IX are involved in binding to other molecules?: The N-terminal EGF-like domain of Factor IX is implicated in binding to tissue factor. Furthermore, residues within the second EGF domain (specifically residues 88 to 109) have been identified as mediating the binding to platelets and facilitating the assembly of the factor X activating complex.
  • What are the four main protein domains that constitute Factor IX?: The Factor IX protein is structurally composed of four distinct protein domains. These include an N-terminal Gla domain, two tandem copies of an EGF (Epidermal Growth Factor)-like domain, and a C-terminal trypsin-like peptidase domain.
  • What biological processes is Factor IX involved in?: Factor IX is involved in several biological processes, most notably hemostasis and blood coagulation, including the intrinsic pathway of blood coagulation. It also plays a role in zymogen activation, signal peptide processing, and peptidyl-glutamic acid carboxylation.

What is the crucial function of the Gla domain in Factor IX?

Answer: Facilitating calcium-dependent binding to phospholipid surfaces.

The Gla domain is essential for Factor IX's ability to bind to negatively charged phospholipid surfaces in a calcium-dependent manner, which is critical for its localization and function within the coagulation complex.

Related Concepts:

  • What is the function of the Gla domain in Factor IX?: The Gla (gamma-carboxyglutamic acid) domain, located at the N-terminus of Factor IX, is crucial for its function as it is responsible for the calcium (Ca(II))-dependent binding to phospholipid surfaces, such as those found on activated platelets.
  • What are the four main protein domains that constitute Factor IX?: The Factor IX protein is structurally composed of four distinct protein domains. These include an N-terminal Gla domain, two tandem copies of an EGF (Epidermal Growth Factor)-like domain, and a C-terminal trypsin-like peptidase domain.
  • What are the key differences in the PDB structures of Factor IX domains?: The PDB structures highlight the distinct functions of Factor IX domains: 1cfh and 1cfi show the Gla domain's structure, crucial for phospholipid binding. 1edm and 1ixa detail the EGF-like domains, involved in binding tissue factor and mediating platelet interactions. 1rfn illustrates the active site of Factor IXa, important for understanding its enzymatic function and inhibition.

Where is the gene responsible for producing Factor IX (F9) located in the human genome?

Answer: The X chromosome

The F9 gene, encoding Factor IX, is located on the X chromosome at band Xq27.1.

Related Concepts:

  • Where is the gene for Factor IX located in the human genome?: The gene responsible for producing Factor IX, known as F9, is located on the X chromosome in humans. Specifically, its locus is identified as Xq27.1-q27.2.
  • What is the UCSC Genome Browser location for the human F9 gene?: The human F9 gene is located on Chr X between 139.53 Mb and 139.56 Mb, according to the UCSC Genome Browser (hg38).
  • What is the chromosomal band location of the F9 gene in humans?: In humans, the F9 gene is located on the X chromosome at band Xq27.1.

Why is Factor IX deficiency classified as an X-linked recessive disorder?

Answer: The F9 gene is located on the X chromosome, and males have only one copy.

The X-linked recessive nature stems from the F9 gene's location on the X chromosome. Males, having only one X chromosome, will express the deficiency if they inherit a mutated allele, whereas females typically require two mutated alleles.

Related Concepts:

  • Why is Factor IX deficiency considered an X-linked recessive disorder?: Factor IX deficiency is classified as X-linked recessive because the F9 gene is located on the X chromosome. This means that males, who have only one X chromosome, are more likely to exhibit symptoms if they inherit a mutated gene, as they lack a second, functional copy. Females, with two X chromosomes, are less frequently affected as they can have one normal copy.

The C-terminal trypsin-like peptidase domain of Factor IX is responsible for:

Answer: The enzymatic cleavage of other proteins in the cascade.

The trypsin-like peptidase domain is the catalytic center of Factor IX, enabling it to perform enzymatic cleavage of target substrates, most notably Factor X, within the coagulation cascade.

Related Concepts:

  • What is the function of the trypsin-like peptidase domain in Factor IX?: The C-terminal trypsin-like peptidase domain of Factor IX is the catalytic domain. It is responsible for carrying out the enzymatic cleavage of specific bonds in other proteins, a key step in the coagulation cascade, particularly in activating Factor X.
  • What biological processes is Factor IX involved in?: Factor IX is involved in several biological processes, most notably hemostasis and blood coagulation, including the intrinsic pathway of blood coagulation. It also plays a role in zymogen activation, signal peptide processing, and peptidyl-glutamic acid carboxylation.
  • What are the molecular functions attributed to Factor IX according to Gene Ontology?: According to Gene Ontology, Factor IX exhibits several molecular functions, including endopeptidase activity, hydrolase activity, metal ion binding (specifically calcium ion binding), protein binding, and peptidase activity, particularly serine-type endopeptidase activity.

The F9 gene spans from base pair 139,530,739 to 139,563,459 on the human X chromosome. What is the approximate length of the gene?

Answer: Approximately 33 kilobases

Calculating the difference between the end and start base pair positions (139,563,459 - 139,530,739) yields approximately 32,720 base pairs, which is approximately 33 kilobases.

Related Concepts:

  • What are the start and end base pair positions for the F9 gene on the human X chromosome?: On the human X chromosome, the F9 gene spans from base pair 139,530,739 to 139,563,459, according to the GRCh38 Ensembl release 89.
  • What is the UCSC Genome Browser location for the human F9 gene?: The human F9 gene is located on Chr X between 139.53 Mb and 139.56 Mb, according to the UCSC Genome Browser (hg38).
  • What is the UCSC Genome Browser location for the mouse F9 gene?: The mouse F9 gene is located on Chr X between 59.04 Mb and 59.08 Mb, according to the UCSC Genome Browser (mm0).

Clinical Implications: Deficiency and Aberrant Activity

A deficiency in Factor IX causes hemophilia A, while a deficiency in Factor VIII causes hemophilia B.

Answer: False

This statement is factually incorrect. A deficiency in Factor IX results in hemophilia B (Christmas disease), whereas a deficiency in Factor VIII causes hemophilia A.

Related Concepts:

  • What medical condition is caused by a deficiency in Factor IX?: A deficiency in Factor IX leads to a bleeding disorder known as hemophilia B, also referred to as Christmas disease. This condition is characterized by impaired blood clotting, which can result in excessive bleeding after injuries or surgery, and spontaneous bleeding into joints and muscles.
  • What is the common name for the condition caused by Factor IX deficiency?: The condition caused by Factor IX deficiency is commonly known as Hemophilia B or Christmas disease.

Fewer than 100 disease-causing mutations in the F9 gene have been identified.

Answer: False

A substantial number of disease-causing mutations have been identified in the F9 gene; the source indicates at least 534 variants have been documented.

Related Concepts:

  • How many disease-causing mutations in the F9 gene have been identified?: A significant number of mutations in the F9 gene have been discovered, with at least 534 disease-causing variants identified. These mutations can affect various parts of the gene, leading to different severities of Factor IX deficiency.

Mutations in the Factor IX gene can only lead to a deficiency, never to an increased risk of clotting.

Answer: False

Certain rare mutations in the F9 gene can result in a gain-of-function, leading to a hyperfunctional Factor IX protein and an increased risk of thrombophilia (excessive clotting).

Related Concepts:

  • Can mutations in Factor IX lead to an increased risk of clotting?: Yes, some rare mutations in the Factor IX gene can result in a gain-of-function, leading to hyperfunctional protein activity. This can increase the risk of blood clot formation, a condition known as thrombophilia, and is associated with familial early-onset deep vein thrombosis.

The Factor IX Padua mutation is associated with a reduced risk of blood clotting.

Answer: False

The Factor IX Padua mutation is a gain-of-function mutation that results in a hyperfunctional enzyme, thereby increasing the risk of blood clotting (thrombophilia).

Related Concepts:

  • What is the clinical significance of the Factor IX Padua mutation?: The Factor IX Padua mutation is a rare gain-of-function mutation that results in a hyperfunctional Factor IX protein. This increased clotting activity is associated with thrombophilia, specifically familial early-onset deep vein thrombosis.

Which medical condition is directly caused by a deficiency in Factor IX?

Answer: Hemophilia B (Christmas disease)

A deficiency in Factor IX is the direct cause of hemophilia B, also known clinically as Christmas disease, characterized by impaired blood clotting.

Related Concepts:

  • What medical condition is caused by a deficiency in Factor IX?: A deficiency in Factor IX leads to a bleeding disorder known as hemophilia B, also referred to as Christmas disease. This condition is characterized by impaired blood clotting, which can result in excessive bleeding after injuries or surgery, and spontaneous bleeding into joints and muscles.
  • What is the common name for the condition caused by Factor IX deficiency?: The condition caused by Factor IX deficiency is commonly known as Hemophilia B or Christmas disease.
  • Why is Factor IX deficiency considered an X-linked recessive disorder?: Factor IX deficiency is classified as X-linked recessive because the F9 gene is located on the X chromosome. This means that males, who have only one X chromosome, are more likely to exhibit symptoms if they inherit a mutated gene, as they lack a second, functional copy. Females, with two X chromosomes, are less frequently affected as they can have one normal copy.

How many disease-causing mutations in the F9 gene have been identified according to the source?

Answer: At least 534

The source indicates that a substantial number of disease-causing mutations have been identified in the F9 gene, with at least 534 variants documented.

Related Concepts:

  • How many disease-causing mutations in the F9 gene have been identified?: A significant number of mutations in the F9 gene have been discovered, with at least 534 disease-causing variants identified. These mutations can affect various parts of the gene, leading to different severities of Factor IX deficiency.
  • What are the start and end base pair positions for the F9 gene on the human X chromosome?: On the human X chromosome, the F9 gene spans from base pair 139,530,739 to 139,563,459, according to the GRCh38 Ensembl release 89.
  • Where is the orthologous F9 gene located in mice?: In mice, the F9 gene is located on the X chromosome at band X A6 or X 33.5 cM. The specific base pair range is from 59,044,824 to 59,076,119 on chromosome X, according to the GRCm38 Ensembl release 89.

Rare mutations in the Factor IX gene can lead to a gain-of-function, resulting in:

Answer: An increased risk of blood clot formation (thrombophilia).

Gain-of-function mutations in the F9 gene can result in a hyperfunctional Factor IX protein, leading to an elevated risk of thrombosis, a condition known as thrombophilia.

Related Concepts:

  • Can mutations in Factor IX lead to an increased risk of clotting?: Yes, some rare mutations in the Factor IX gene can result in a gain-of-function, leading to hyperfunctional protein activity. This can increase the risk of blood clot formation, a condition known as thrombophilia, and is associated with familial early-onset deep vein thrombosis.
  • What medical condition is caused by a deficiency in Factor IX?: A deficiency in Factor IX leads to a bleeding disorder known as hemophilia B, also referred to as Christmas disease. This condition is characterized by impaired blood clotting, which can result in excessive bleeding after injuries or surgery, and spontaneous bleeding into joints and muscles.
  • What is the clinical significance of the Factor IX Padua mutation?: The Factor IX Padua mutation is a rare gain-of-function mutation that results in a hyperfunctional Factor IX protein. This increased clotting activity is associated with thrombophilia, specifically familial early-onset deep vein thrombosis.

Biochemical Classification and Databases

Factor IX is classified under the Enzyme Commission (EC) number 3.4.21.22.

Answer: True

The Enzyme Commission (EC) number 3.4.21.22 is indeed assigned to Factor IX, classifying it as a serine-type endopeptidase.

Related Concepts:

  • What is the EC number assigned to Factor IX?: Factor IX is assigned the Enzyme Commission (EC) number 3.4.21.22.

The primary gene symbol for Factor IX is F9, but it is also known by aliases such as FIX and PTC.

Answer: True

The gene encoding Factor IX is officially designated F9. Common aliases include FIX and PTC, among others.

Related Concepts:

  • What are the gene symbols and other aliases used for Factor IX?: The primary gene symbol for Factor IX is F9. Other aliases include F9 p22, FIX, HEMB, P19, PTC, and THPH8. It is also referred to as coagulation factor IX and blood coagulation factor IX.

The Protein Data Bank (PDB) does not contain any structural information for Factor IX.

Answer: False

The Protein Data Bank (PDB) contains numerous entries detailing the three-dimensional structures of Factor IX and its various forms, crucial for structural biology research.

Related Concepts:

  • What external databases provide information on Factor IX structures?: The Protein Data Bank (PDB) provides structural information for Factor IX. Specific PDB IDs mentioned include 1CFH, 1CFI, 1EDM, 1IXA, 1MGX, 1NL0, and 1RFN, among others. External links to PDBe and RCSB are also provided for searching these structures.

Gene Ontology attributes hydrolase activity and calcium ion binding to Factor IX.

Answer: True

Gene Ontology annotations confirm that Factor IX possesses hydrolase activity and is involved in calcium ion binding, reflecting its biochemical functions.

Related Concepts:

  • What are the molecular functions attributed to Factor IX according to Gene Ontology?: According to Gene Ontology, Factor IX exhibits several molecular functions, including endopeptidase activity, hydrolase activity, metal ion binding (specifically calcium ion binding), protein binding, and peptidase activity, particularly serine-type endopeptidase activity.

Amigo and QuickGO are primary sources for Gene Ontology information regarding Factor IX.

Answer: True

Amigo and QuickGO are indeed recognized as primary databases and interfaces for accessing Gene Ontology (GO) annotations, including those pertaining to Factor IX.

Related Concepts:

  • What are the primary sources for Gene Ontology information regarding Factor IX?: The primary sources for Gene Ontology information related to Factor IX are Amigo and QuickGO, which provide comprehensive databases for gene function annotations.

The Entrez Gene ID for human Factor IX is 14071.

Answer: False

The Entrez Gene ID for human Factor IX is 2158. The ID 14071 corresponds to mouse Factor IX.

Related Concepts:

  • What is the Entrez Gene ID for human Factor IX?: The Entrez Gene ID for human Factor IX is 2158.
  • What is the Entrez Gene ID for mouse Factor IX?: The Entrez Gene ID for mouse Factor IX is 14071.

The UniProt accession number P00740 corresponds to mouse Factor IX.

Answer: False

The UniProt accession number P00740 is assigned to human Factor IX. The corresponding accession number for mouse Factor IX is P16294.

Related Concepts:

  • What are the UniProt accession numbers for human and mouse Factor IX?: The UniProt accession number for human Factor IX is P00740, and for mouse Factor IX, it is P16294.

The PDB structure 1cfi illustrates the human coagulation Factor IXa in complex with p-aminobenzamidine.

Answer: False

PDB structure 1cfi depicts the calcium ion-bound gamma-carboxyglutamic acid-rich (Gla) domain of Factor IX, not the activated Factor IXa in complex with p-aminobenzamidine. Structure 1rfn, for instance, depicts Factor IXa in complex with p-aminobenzamidine.

Related Concepts:

  • What is the significance of the PDB structure 1cfi?: The PDB structure 1cfi represents the NMR structure of the calcium ion-bound gamma-carboxyglutamic acid-rich domain of Factor IX. This structure is important for understanding how the Gla domain interacts with calcium and phospholipids.
  • What does the PDB structure 1rfn illustrate?: The PDB structure 1rfn shows the human coagulation Factor IXa in complex with p-aminobenzamidine. This structure provides insights into the active site of the enzyme and how it interacts with potential inhibitors or substrates.

The EAHAD database compiles information on mutations found in the Factor IX gene.

Answer: True

The European Association for Haemophilia and Allied Disorders (EAHAD) maintains a database dedicated to cataloging mutations identified within the Factor IX gene.

Related Concepts:

  • What is the role of the F9 gene variant database maintained by EAHAD?: The EAHAD (European Association for Haemophilia and Allied Disorders) maintains a database of all mutations found in the Factor IX gene. This database serves as a comprehensive resource for researchers and clinicians studying the genetic basis of Factor IX deficiency.

According to MEROPS, Factor IX is classified as a cysteine protease.

Answer: False

The MEROPS database classifies Factor IX as a serine protease, reflecting the presence of a serine residue in its catalytic active site.

Related Concepts:

  • What is the MEROPS database classification for Factor IX?: According to the MEROPS database, Factor IX is classified under S01.214, indicating its role as a serine protease.

The PDB structure 1edm provides insights into the EGF-like domains of Factor IX.

Answer: True

The Protein Data Bank structure 1edm offers valuable insights into the structural characteristics and potential functions of the Epidermal Growth Factor (EGF)-like domains within the Factor IX protein.

Related Concepts:

  • What are the key differences in the PDB structures of Factor IX domains?: The PDB structures highlight the distinct functions of Factor IX domains: 1cfh and 1cfi show the Gla domain's structure, crucial for phospholipid binding. 1edm and 1ixa detail the EGF-like domains, involved in binding tissue factor and mediating platelet interactions. 1rfn illustrates the active site of Factor IXa, important for understanding its enzymatic function and inhibition.
  • What external databases provide information on Factor IX structures?: The Protein Data Bank (PDB) provides structural information for Factor IX. Specific PDB IDs mentioned include 1CFH, 1CFI, 1EDM, 1IXA, 1MGX, 1NL0, and 1RFN, among others. External links to PDBe and RCSB are also provided for searching these structures.

The PDB structure 1rfn shows Factor IX in its inactive zymogen form.

Answer: False

PDB structure 1rfn illustrates the activated form of Factor IX (Factor IXa) in complex with p-aminobenzamidine, providing insights into its active site, not its inactive zymogen form.

Related Concepts:

  • What external databases provide information on Factor IX structures?: The Protein Data Bank (PDB) provides structural information for Factor IX. Specific PDB IDs mentioned include 1CFH, 1CFI, 1EDM, 1IXA, 1MGX, 1NL0, and 1RFN, among others. External links to PDBe and RCSB are also provided for searching these structures.
  • What does the PDB structure 1rfn illustrate?: The PDB structure 1rfn shows the human coagulation Factor IXa in complex with p-aminobenzamidine. This structure provides insights into the active site of the enzyme and how it interacts with potential inhibitors or substrates.

The RefSeq accession number NM_000133 is for mouse Factor IX mRNA.

Answer: False

The RefSeq accession number NM_000133 corresponds to human Factor IX mRNA. The accession number for mouse Factor IX mRNA is NM_007979.

Related Concepts:

  • What are the RefSeq accession numbers for human Factor IX mRNA?: The RefSeq accession numbers for human Factor IX mRNA are NM_000133 and NM_001313913.
  • What are the RefSeq accession numbers for mouse Factor IX mRNA?: The RefSeq accession numbers for mouse Factor IX mRNA are NM_007979 and NM_001305797.

What does the EC number 3.4.21.22 signify for Factor IX?

Answer: Its primary function as a serine protease.

The EC number 3.4.21.22 classifies Factor IX as a serine-type endopeptidase, indicating its enzymatic function and the catalytic residue involved.

Related Concepts:

  • What is the EC number assigned to Factor IX?: Factor IX is assigned the Enzyme Commission (EC) number 3.4.21.22.
  • What is the Entrez Gene ID for human Factor IX?: The Entrez Gene ID for human Factor IX is 2158.
  • What is the significance of Factor IX being on the World Health Organization's List of Essential Medicines?: Factor IX is recognized on the World Health Organization's List of Essential Medicines, indicating its importance and necessity for public health. This designation suggests that it is a crucial medication for treating specific conditions, ensuring its availability and accessibility for patients who need it.

Which of the following is an alias for the Factor IX gene?

Answer: PTC

PTC (Plasma Thromboplastin Component) is a known alias for the Factor IX gene (F9).

Related Concepts:

  • What are the gene symbols and other aliases used for Factor IX?: The primary gene symbol for Factor IX is F9. Other aliases include F9 p22, FIX, HEMB, P19, PTC, and THPH8. It is also referred to as coagulation factor IX and blood coagulation factor IX.
  • Where is the gene for Factor IX located in the human genome?: The gene responsible for producing Factor IX, known as F9, is located on the X chromosome in humans. Specifically, its locus is identified as Xq27.1-q27.2.
  • What is the Entrez Gene ID for human Factor IX?: The Entrez Gene ID for human Factor IX is 2158.

Which PDB structure mentioned in the source illustrates the active site of Factor IXa interacting with a potential inhibitor?

Answer: 1rfn

The Protein Data Bank (PDB) structure 1rfn depicts the human coagulation Factor IXa in complex with p-aminobenzamidine, offering insights into its active site and inhibitor interactions.

Related Concepts:

  • What does the PDB structure 1rfn illustrate?: The PDB structure 1rfn shows the human coagulation Factor IXa in complex with p-aminobenzamidine. This structure provides insights into the active site of the enzyme and how it interacts with potential inhibitors or substrates.
  • What external databases provide information on Factor IX structures?: The Protein Data Bank (PDB) provides structural information for Factor IX. Specific PDB IDs mentioned include 1CFH, 1CFI, 1EDM, 1IXA, 1MGX, 1NL0, and 1RFN, among others. External links to PDBe and RCSB are also provided for searching these structures.
  • What are the key differences in the PDB structures of Factor IX domains?: The PDB structures highlight the distinct functions of Factor IX domains: 1cfh and 1cfi show the Gla domain's structure, crucial for phospholipid binding. 1edm and 1ixa detail the EGF-like domains, involved in binding tissue factor and mediating platelet interactions. 1rfn illustrates the active site of Factor IXa, important for understanding its enzymatic function and inhibition.

According to Gene Ontology, Factor IX exhibits which molecular function?

Answer: Endopeptidase activity

Gene Ontology annotations classify Factor IX as possessing endopeptidase activity, reflecting its role as an enzyme that cleaves internal peptide bonds.

Related Concepts:

  • What are the molecular functions attributed to Factor IX according to Gene Ontology?: According to Gene Ontology, Factor IX exhibits several molecular functions, including endopeptidase activity, hydrolase activity, metal ion binding (specifically calcium ion binding), protein binding, and peptidase activity, particularly serine-type endopeptidase activity.
  • What biological processes is Factor IX involved in?: Factor IX is involved in several biological processes, most notably hemostasis and blood coagulation, including the intrinsic pathway of blood coagulation. It also plays a role in zymogen activation, signal peptide processing, and peptidyl-glutamic acid carboxylation.
  • What are the primary sources for Gene Ontology information regarding Factor IX?: The primary sources for Gene Ontology information related to Factor IX are Amigo and QuickGO, which provide comprehensive databases for gene function annotations.

What is the Entrez Gene ID for human Factor IX?

Answer: 2158

The Entrez Gene ID for the human F9 gene, which encodes Factor IX, is 2158.

Related Concepts:

  • What is the Entrez Gene ID for human Factor IX?: The Entrez Gene ID for human Factor IX is 2158.
  • What is the Entrez Gene ID for mouse Factor IX?: The Entrez Gene ID for mouse Factor IX is 14071.
  • What are the UniProt accession numbers for human and mouse Factor IX?: The UniProt accession number for human Factor IX is P00740, and for mouse Factor IX, it is P16294.

Which of the following is a correct RefSeq accession number for human Factor IX mRNA?

Answer: NM_000133

NM_000133 is a valid RefSeq accession number for human Factor IX mRNA. NM_007979 and NM_001305797 are associated with mouse Factor IX mRNA.

Related Concepts:

  • What are the RefSeq accession numbers for human Factor IX mRNA?: The RefSeq accession numbers for human Factor IX mRNA are NM_000133 and NM_001313913.
  • What are the RefSeq accession numbers for mouse Factor IX mRNA?: The RefSeq accession numbers for mouse Factor IX mRNA are NM_007979 and NM_001305797.
  • What are the UniProt accession numbers for human and mouse Factor IX?: The UniProt accession number for human Factor IX is P00740, and for mouse Factor IX, it is P16294.

What is the primary classification of Factor IX within the MEROPS database?

Answer: Serine protease

The MEROPS database classifies Factor IX as a serine protease, reflecting its enzymatic mechanism involving a serine residue in the active site.

Related Concepts:

  • What is the MEROPS database classification for Factor IX?: According to the MEROPS database, Factor IX is classified under S01.214, indicating its role as a serine protease.
  • What is the EC number assigned to Factor IX?: Factor IX is assigned the Enzyme Commission (EC) number 3.4.21.22.
  • What are the primary sources for Gene Ontology information regarding Factor IX?: The primary sources for Gene Ontology information related to Factor IX are Amigo and QuickGO, which provide comprehensive databases for gene function annotations.

Therapeutic Strategies and Research Advances

Factor IX is listed on the World Health Organization's List of Essential Medicines due to its critical role in treating specific conditions.

Answer: True

The inclusion of Factor IX on the World Health Organization's List of Essential Medicines underscores its critical importance in the management of specific medical conditions, ensuring its availability for patient care.

Related Concepts:

  • What is the significance of Factor IX being on the World Health Organization's List of Essential Medicines?: Factor IX is recognized on the World Health Organization's List of Essential Medicines, indicating its importance and necessity for public health. This designation suggests that it is a crucial medication for treating specific conditions, ensuring its availability and accessibility for patients who need it.

Kotoku Kurachi and Earl Davie are credited with cloning the F9 gene in 1982.

Answer: True

The seminal work of cloning the F9 gene was accomplished by Kotoku Kurachi and Earl Davie in 1982, representing a significant advancement in understanding Factor IX genetics.

Related Concepts:

  • Who were the scientists credited with cloning the F9 gene?: The gene for Factor IX (F9) was first cloned in 1982 by Kotoku Kurachi and Earl Davie.

Polly, a sheep cloned by Ian Wilmut, was genetically engineered to produce human Factor IX.

Answer: True

The transgenic sheep named Polly, developed by Ian Wilmut's team, was engineered to express the human Factor IX gene, demonstrating the potential for producing therapeutic proteins in livestock.

Related Concepts:

  • What notable achievement involved Factor IX and genetic engineering in sheep?: In 1997, Dr. Ian Wilmut, known for cloning Dolly the sheep, produced a transgenic Poll Dorset sheep named Polly. This sheep was genetically engineered to carry the human gene for Factor IX, demonstrating the potential for producing therapeutic proteins in livestock.

Nonacog alfa (Benefix) and albutrepenonacog alfa (Idelvion) are brand names for recombinant Factor IX treatments.

Answer: True

Benefix (nonacog alfa) and Idelvion (albutrepenonacog alfa) are indeed recognized brand names for therapeutic products utilizing recombinant Factor IX.

Related Concepts:

  • What are the different types of Factor IX treatments available, and what are their brand names?: Recombinant Factor IX is used to treat hemophilia B. Several formulations exist, including nonacog alfa (Benefix), nonacog gamma (Rixubis), albutrepenonacog alfa (Idelvion), eftrenonacog alfa (Alprolix), and nonacog beta pegol (Refixia). Other formulations include coagulation factor IX [recombinant] (Benefix, Ixinity, Rebinyn, Rixubis), coagulation factor IX (human) (Alphanine SD), and coagulation factor IX (recombinant), Fc fusion protein (Alprolix).

Tranexamic acid is used to directly replace the missing Factor IX in patients with hemophilia B.

Answer: False

Tranexamic acid is an antifibrinolytic agent that aids in clot stabilization. It does not replace Factor IX but can be used adjunctively to reduce bleeding risk in certain situations.

Related Concepts:

  • What is the role of tranexamic acid in managing Factor IX deficiency?: Tranexamic acid may be beneficial for patients with inherited Factor IX deficiency who are undergoing surgery. It can help reduce the perioperative risk of bleeding by aiding in clot stabilization.

In Australia, Factor IX treatments like Benefix are available over-the-counter without a prescription.

Answer: False

Factor IX replacement therapies, such as Benefix, are prescription-only medications and are not available over-the-counter in Australia or most other jurisdictions.

Related Concepts:

  • What is the legal status of Factor IX treatments like Benefix and Idelvion in Australia?: In Australia, Factor IX treatments such as Benefix and Idelvion are classified as Schedule 4 (S4) medications, meaning they are available only by prescription.

The primary route of administration for Factor IX treatments like Rixubis is intramuscular injection.

Answer: False

Factor IX replacement therapies, including Rixubis, are administered intravenously (IV) to ensure direct entry into the bloodstream for systemic circulation.

Related Concepts:

  • What is the primary route of administration for Factor IX treatments like Rixubis?: Rixubis, a Factor IX treatment, is administered intravenously, meaning it is given directly into a vein.

Eftrenonacog alfa (Alprolix) is a formulation of Factor IX that utilizes an Fc fusion protein.

Answer: True

Eftrenonacog alfa (Alprolix) is indeed a Factor IX therapy that incorporates an Fc fusion protein technology to extend its half-life.

Related Concepts:

  • What are the different types of Factor IX treatments available, and what are their brand names?: Recombinant Factor IX is used to treat hemophilia B. Several formulations exist, including nonacog alfa (Benefix), nonacog gamma (Rixubis), albutrepenonacog alfa (Idelvion), eftrenonacog alfa (Alprolix), and nonacog beta pegol (Refixia). Other formulations include coagulation factor IX [recombinant] (Benefix, Ixinity, Rebinyn, Rixubis), coagulation factor IX (human) (Alphanine SD), and coagulation factor IX (recombinant), Fc fusion protein (Alprolix).

Who were the scientists credited with the initial cloning of the F9 gene?

Answer: Kotoku Kurachi and Earl Davie

The pioneering work of cloning the F9 gene was performed by Kotoku Kurachi and Earl Davie in 1982.

Related Concepts:

  • Who were the scientists credited with cloning the F9 gene?: The gene for Factor IX (F9) was first cloned in 1982 by Kotoku Kurachi and Earl Davie.

What was the significance of the transgenic sheep named Polly?

Answer: It demonstrated the production of human Factor IX in livestock.

The transgenic sheep Polly was genetically engineered to produce human Factor IX, showcasing the potential of using livestock as bioreactors for therapeutic protein production.

Related Concepts:

  • What notable achievement involved Factor IX and genetic engineering in sheep?: In 1997, Dr. Ian Wilmut, known for cloning Dolly the sheep, produced a transgenic Poll Dorset sheep named Polly. This sheep was genetically engineered to carry the human gene for Factor IX, demonstrating the potential for producing therapeutic proteins in livestock.

Which of the following is a brand name for a recombinant Factor IX treatment mentioned in the source?

Answer: Rixubis

Rixubis is listed as a brand name for a recombinant Factor IX treatment, alongside others like Benefix and Idelvion.

Related Concepts:

  • What are the different types of Factor IX treatments available, and what are their brand names?: Recombinant Factor IX is used to treat hemophilia B. Several formulations exist, including nonacog alfa (Benefix), nonacog gamma (Rixubis), albutrepenonacog alfa (Idelvion), eftrenonacog alfa (Alprolix), and nonacog beta pegol (Refixia). Other formulations include coagulation factor IX [recombinant] (Benefix, Ixinity, Rebinyn, Rixubis), coagulation factor IX (human) (Alphanine SD), and coagulation factor IX (recombinant), Fc fusion protein (Alprolix).
  • What is the primary route of administration for Factor IX treatments like Rixubis?: Rixubis, a Factor IX treatment, is administered intravenously, meaning it is given directly into a vein.
  • What is the legal status of Factor IX treatments like Benefix and Idelvion in Australia?: In Australia, Factor IX treatments such as Benefix and Idelvion are classified as Schedule 4 (S4) medications, meaning they are available only by prescription.

What is the function of tranexamic acid in managing Factor IX deficiency, particularly during surgery?

Answer: It helps stabilize blood clots and reduce bleeding risk.

Tranexamic acid functions as an antifibrinolytic agent, enhancing the stability of blood clots and thereby reducing bleeding risk, particularly in surgical contexts for patients with bleeding disorders.

Related Concepts:

  • What is the role of tranexamic acid in managing Factor IX deficiency?: Tranexamic acid may be beneficial for patients with inherited Factor IX deficiency who are undergoing surgery. It can help reduce the perioperative risk of bleeding by aiding in clot stabilization.

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