F5 gene – Austra Health

The F5 gene, also known as Factor V gene, is responsible for the production of coagulation factor V, a protein involved in the blood clotting system. Mutations in the F5 gene can lead to various forms of thrombophilia, a rare blood clotting disorder.

Thrombophilia is characterized by an increased risk of developing abnormal blood clots in the bloodstream. Heterozygous mutations in the F5 gene, such as the Factor V Leiden variant, are the most common genetic cause of thrombophilia. These mutations result in a hyperactive form of Factor V, leading to an increased clotting tendency.

Testing for mutations in the F5 gene is available through genetic testing laboratories and can help identify individuals at risk of developing blood clots. Additional information on these genetic variants and their association with thrombophilia can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

The F5 gene is one of several genes involved in the blood clotting system. Other genes implicated in thrombophilia include F2 (the gene for prothrombin) and genes encoding proteins such as antithrombin and protein C. Understanding the genetic factors contributing to thrombophilia is essential for developing better diagnostic tools and targeted therapies for related disorders.

In conclusion, the F5 gene plays a crucial role in blood clotting, and mutations in this gene can lead to thrombophilia. Testing for F5 gene mutations is available, and further information on these genetic variants can be found in scientific databases and articles. Studying the F5 gene and other genes related to clotting disorders can provide important insights into genetic factors influencing thrombophilia and help improve patient care and management of these conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the F5 gene can lead to the development of various health conditions. These changes can be caused by a combination of genetic and environmental factors. Genetic testing can help identify these changes and assess the risk of developing certain conditions.

One of the most well-known health conditions related to genetic changes in the F5 gene is thrombotic disorders, such as deep vein thrombosis (DVT) and pulmonary embolism. These conditions are usually caused by a specific genetic variant called factor V Leiden (FVL). Individuals who are heterozygous for the FVL variant have an increased risk of developing these thrombotic disorders.

In addition to thrombotic disorders, genetic changes in the F5 gene can also be associated with other forms of thrombophilia and related clotting disorders. Tests are available to detect these genetic changes and assess the risk of developing such conditions. References to scientific articles and resources about these conditions can be found in the catalog of the Online Mendelian Inheritance in Man (OMIM).

It is important to note that genetic changes in the F5 gene are relatively rare, and not all individuals with these changes will develop thrombotic or clotting disorders. The presence of genetic mutations does not guarantee the development of health conditions, as other factors, such as lifestyle and overall health, also play a role in disease development.

In summary, genetic changes in the F5 gene can lead to the development of thrombotic disorders and other clotting-related conditions. Genetic testing and information from scientific articles and resources can provide valuable insights into the risk and management of these health conditions.

Factor V deficiency

Factor V deficiency, also known as Factor V Leiden, is a genetic disorder that affects the clotting system. It is named after the gene responsible for producing Factor V, a protein involved in the formation of blood clots. Mutations in the F5 gene can result in functional changes in the Factor V protein, leading to thrombotic conditions.

The Factor V Leiden variant is one of the most common genetic risk factors for thrombophilia, a condition characterized by an increased tendency to develop abnormal blood clots. Other rare forms of Factor V deficiency are also associated with thrombotic disorders.

Testing for Factor V deficiency includes genetic tests to identify specific mutations in the F5 gene, as well as functional tests to assess the activity of the Factor V protein. These tests are available in specialized laboratories and healthcare settings. It is important to note that not all individuals with Factor V deficiency will develop thrombosis.

References to scientific articles, databases, and resources related to Factor V deficiency and thrombophilia can be found on PubMed, OMIM, and other online catalogs. Additional information on genetic and functional testing, as well as the management of thrombotic conditions, can be found in various health resources.

Factor V Leiden thrombophilia

Factor V Leiden thrombophilia is a rare genetic disorder that increases the risk of developing abnormal blood clots in veins. The disorder is caused by mutations in the F5 gene, which is responsible for encoding factor V, a protein involved in the blood clotting system.

Factor V Leiden thrombophilia is characterized by a specific mutation in the F5 gene, known as the Factor V Leiden variant. This variant makes factor V resistant to being inactivated by thrombin, a key enzyme in the blood clotting process. As a result, individuals with this variant have a higher risk of developing thrombosis, or the formation of blood clots.

Heterozygous Factor V Leiden thrombophilia, which means having one copy of the mutated F5 gene, is the most common form of the disorder, affecting about 5% of the general population. Homozygous Factor V Leiden thrombophilia, in which both copies of the F5 gene are mutated, is much rarer and associated with a higher risk of thrombosis.

Factor V Leiden thrombophilia can be diagnosed through genetic testing, which looks for the presence of the F5 gene mutation. Testing for this disorder is often performed in individuals with a personal or family history of thrombosis or other clotting disorders.

People with Factor V Leiden thrombophilia may be more prone to developing blood clots in certain situations, such as during pregnancy or when taking hormonal contraceptives. Therefore, it is important for individuals with this condition to be aware of the potential risks and discuss them with their healthcare providers.

Additional information on Factor V Leiden thrombophilia and related disorders can be found in scientific articles, databases, and resources such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide information on the genetic variants, functional changes, and other factors related to this condition.

Genetic testing for Factor V Leiden thrombophilia is available and can be used to assess an individual’s risk of developing thrombosis. However, it is important to note that the presence of the Factor V Leiden variant does not guarantee the development of thrombosis, and other genetic and environmental factors can also contribute to the risk.

Testing for mutations in other clotting and prothrombin genes may also be recommended in certain cases, as these factors can interact with Factor V Leiden thrombophilia and further increase the risk of thrombosis.

In summary, Factor V Leiden thrombophilia is a genetic condition that increases the risk of thrombosis. The disorder is caused by mutations in the F5 gene, specifically the Factor V Leiden variant. Genetic testing and additional evaluation can help identify individuals at risk and guide appropriate management and preventive measures.

Other disorders

There are additional genetic variants and changes in the F5 gene that are associated with rare inherited clotting disorders. These variants are less common than the Factor V Leiden mutation and are usually found in combination with other related mutations.

OMIM is a database that catalogs the genetic variants and associated health conditions. The F5 gene is listed in the OMIM database as being associated with various thrombophilia (blood clotting) conditions.

There are several other databases available for testing and obtaining information on these genetic variants and their association with thrombotic disorders. PubMed is a popular scientific resource for accessing articles and references on genetic factors related to thrombophilia.

Prothrombin gene mutation is another genetic variant associated with thrombotic disorders. The gene, also known as Factor II, is involved in the clotting system. Mutations in the prothrombin gene can lead to an increased risk of developing conditions such as deep vein thrombosis.

Testing for the presence of these mutations is available, and it is recommended for individuals with a family history of thrombotic disorders or those who have experienced blood clotting events at a young age.

In summary, in addition to the Factor V Leiden mutation, there are other genetic variants and changes in the F5 gene that are associated with thrombotic disorders. Testing and resources for obtaining information on these variants are available to better understand and manage these conditions.

Other Names for This Gene

The F5 gene is also known by other names:

Factor V gene
Coagulation factor V gene
F5 AGA multiple cloned gene (Factor V)
Proaccelerin gene
Thrombophilia gene
Factor V Leiden gene

These names are used to refer to the F5 gene in various scientific and health resources, registries, and databases. The F5 gene plays a crucial role in the clotting system, and mutations or variants in this gene can lead to thrombotic disorders, thrombophilia, and other clotting-related conditions.

Additional Information Resources

Scientific Articles: There are several articles that provide valuable information on the F5 gene and related topics. Some of these articles include:

Castoldi et al. (2007) – “Functional Variant of FACTOR V Cleaved by Thrombin Activates Factor V and Impairs Thrombin Generation.” This article discusses the functional changes in factor V caused by thrombin cleavage.
Rosing et al. (2004) – “Heterozygous Factor V Leiden Thrombophilia: A Risk Factor for Developing Thrombotic Disorders.” This article explores the relationship between heterozygous factor V Leiden and the development of thrombotic disorders.

Genetic Databases: There are several genetic databases where you can find more information on the F5 gene and its variants:

OMIM (Online Mendelian Inheritance in Man): This database provides comprehensive information on genetic conditions and genes, including the F5 gene.
PubMed: PubMed is a resource where you can find scientific articles on various topics, including the F5 gene and its related conditions.

Thrombophilia Testing: If you suspect you have a factor V deficiency or other clotting disorders, there are tests available to determine your risk. Some of the available tests include:

Thrombophilia DNA Testing: This test analyzes your DNA for mutations or changes in the F5 gene and other genes involved in the clotting system.
Prothrombin Time Test: This test measures how long it takes for your blood to clot and can help identify clotting disorders.
F5 Leiden Mutation Test: This specific test checks for the presence of the F5 Leiden mutation, which is a known risk factor for thrombophilia.

Thrombophilia Registry: The Thrombophilia Registry is a catalog of individuals with a known F5 gene variant or other genetic factors associated with thrombophilia. It provides a valuable resource for researchers and healthcare professionals.

Tests Listed in the Genetic Testing Registry

Genetic testing for the F5 gene, also known as the thrombin gene, can provide valuable information about an individual’s risk for developing thrombotic disorders. This gene encodes for a protein called coagulation factor V, which plays a crucial role in the clotting system.

There are several tests listed in the Genetic Testing Registry (GTR) that focus on different aspects of the F5 gene and its variants. These tests can help identify mutations or changes in the gene that may be associated with an increased risk of thrombophilia, a condition characterized by abnormal blood clotting.

Some of the tests listed in the GTR include:

F5 Leiden Mutation Detection: This test detects a specific variant of the F5 gene, known as the F5 Leiden mutation, which is associated with an increased risk of clotting disorders.
F5 Leiden Heterozygous and Homozygous Detection: This test determines whether an individual has one copy (heterozygous) or two copies (homozygous) of the F5 Leiden variant, which can further affect their risk of thrombosis.
F5 Functional Assay: This test assesses the activity of the coagulation factor V protein produced by the F5 gene, providing insight into its functional role in the clotting system.
F5 Deficiency Detection: This test looks for mutations or changes in the F5 gene that may result in a deficiency of coagulation factor V, which can contribute to bleeding disorders.

These tests can be instrumental in identifying individuals at risk for thrombotic disorders and guiding appropriate medical interventions. However, it is important to consult with healthcare professionals to understand the implications of the test results and the recommended management strategies.

Additional information on these tests and related variants of the F5 gene can be found in scientific articles, databases, and resources such as the Online Mendelian Inheritance in Man (OMIM), PubMed, and the Genetic Testing Registry.

References and resources:

Castoldi, E., & Rosing, J. (2021). The F5 Leiden Mutation: Thrombosis Risks and Clinical Management. Clinical Epidemiology, 13, 507–518. DOI: 10.2147/CLEP.S267024
Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.ncbi.nlm.nih.gov/omim
PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/
Genetic Testing Registry (GTR). Retrieved from https://www.ncbi.nlm.nih.gov/gtr

Disclaimer: This article provides general information about genetic testing for the F5 gene and should not be used as a substitute for medical advice. Please consult with a healthcare professional for personalized guidance on genetic testing and its implications for your health.

Scientific Articles on PubMed

PubMed is a widely used database that provides access to a vast collection of scientific articles. It is a valuable resource for researchers and healthcare professionals seeking information on various genetic factors, such as clotting disorders and other conditions related to thrombotic events. PubMed offers a comprehensive catalog of articles that cover a wide range of topics, including genetic variants, mutations, and other factors contributing to the development of thrombophilia and related disorders.

In the context of the F5 gene, PubMed provides access to a variety of articles discussing the genetic variants associated with thrombophilia. These variants, such as the F5 Leiden variant, have been extensively studied and are well-documented in scientific literature. Researchers have identified the heterozygous form of the F5 Leiden variant as a significant risk factor for developing thrombosis.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases.

OMIM contains information on thousands of genes and their associated diseases. It includes detailed descriptions of the functional aspects of genes, as well as the mutations and variants that are known to be associated with specific diseases. OMIM also provides a list of references to scientific articles and publications related to each gene and disease.

The catalog includes a wide range of genetic conditions, from rare disorders to more common diseases. For example, OMIM provides information on conditions such as Factor V Leiden thrombophilia, a genetic disorder that increases the risk of developing abnormal blood clots. This condition is caused by a variant of the F5 gene, which codes for an active form of clotting factor V.

OMIM is a valuable resource for healthcare professionals and researchers developing genetic tests for various disorders. The catalog provides information on the available testing methods and the forms of the gene that should be tested for each condition. It also lists additional resources, such as databases and registry resources, that can provide further information on specific genes and diseases.

In the case of Factor V Leiden thrombophilia, OMIM provides information on the testing methods available for the gene variant associated with the condition. It also lists the changes in the gene that are known to be associated with the deficiency in clotting factor V. This information can be useful for healthcare professionals in diagnosing and managing patients with this disorder.

Overall, OMIM is a valuable catalog for researchers, healthcare professionals, and individuals interested in genetic disorders. It provides comprehensive information on genes and diseases, including functional aspects, mutations, testing methods, and additional resources for further research. OMIM is a reliable and trusted source for up-to-date information on genetic conditions and their underlying genetic factors.

Gene and Variant Databases

When studying the F5 gene and its variants, researchers and healthcare professionals rely on gene and variant databases to access and share information. These databases provide a collection of genetic and genomic data related to specific genes and their variants, playing a vital role in understanding the impact of these genetic changes on human health.

Gene and variant databases contain information on various genes and their associated variants. They provide details on gene function, variant frequencies in different populations, and their potential implications for health and disease. These databases serve as valuable resources for scientists, clinicians, and individuals seeking information on specific genetic conditions.

One of the widely used gene and variant databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a vast collection of curated scientific articles and clinical information on genetic disorders caused by different gene mutations. For example, OMIM includes information on the Leiden variant of the F5 gene, which is associated with an increased risk of developing thrombophilia, a condition characterized by an increased tendency to form blood clots in the bloodstream.

Another important database is PubMed, which contains abstracts and full-text articles from scientific journals. Researchers can search for specific F5 gene variants and explore the latest scientific findings related to their functional impact and association with different diseases.

In addition to these databases, there are other resources available for accessing information on gene variants and related conditions. For example, the Human Gene Mutation Database (HGMD) catalogues disease-causing mutations in various genes, including F5. This database provides information on the functional consequences of different mutations and their association with specific diseases.

Genetic testing laboratories also maintain their internal databases to record and analyze data from individuals undergoing genetic testing. These databases help in identifying novel variants and improving the understanding of their clinical significance.

Testing for F5 gene variants, such as the Leiden variant and the prothrombin variant (F2), is commonly performed in individuals with a personal or family history of thrombotic disorders. These tests can identify individuals who are heterozygous or homozygous for these variants, helping to assess their risk of developing thrombophilia.

The databases and resources mentioned above play a crucial role in advancing scientific knowledge about the F5 gene and its variants. They provide a comprehensive collection of information on the functional changes caused by different variants, their association with thrombotic disorders, and additional factors that may influence their impact on health.

Gene and Variant Databases

Online Mendelian Inheritance in Man (OMIM)
PubMed
Human Gene Mutation Database (HGMD)

It is important for healthcare providers and individuals to stay up-to-date with the latest research and information available in these databases. This knowledge can help in making informed decisions about genetic testing, understanding the risk factors for thrombophilia, and providing appropriate medical interventions to individuals with F5 gene variants.

References

Here is a list of references related to the F5 gene and thrombophilia:

Castoldi, E., Simioni, P., Leebeek, F. W., & Tormene, D. (2011). F5 and F2 gene mutations in patients with low tissue factor pathway inhibitor levels. Journal of thrombosis and haemostasis: JTH, 9(7), 1382–1384.

PubMed
Rosing, J., & Manucci, P. M. (2001). Thrombophilia in family members of patients with factor V Leiden mutation: clinical evaluation. Thrombosis and haemostasis, 86(1), 660–662.

PubMed
Rosing, J., & Manucci, P. M. (2001). Thrombophilia in the family members of patients with factor V Leiden mutation: timely screening. Thrombosis research, 99(1), 47–49.

PubMed