Normal Function
The F10 gene provides instructions for making a protein called coagulation factor X. Coagulation factors are a group of related proteins that are involved in the coagulation system, which is a series of chemical reactions that form blood clots. After an injury, clots seal off blood vessels to stop bleeding and trigger blood vessel repair.
Coagulation factor X is made primarily by cells in the liver. The protein circulates in the bloodstream in an inactive form until the coagulation system is turned on (activated) by an injury that damages blood vessels. When coagulation factor X is activated, it interacts with other coagulation factors to convert an important coagulation protein called prothrombin to its active form, thrombin. Thrombin then converts a protein called fibrinogen into fibrin, which is the material that forms blood clots.
Health Conditions Related to Genetic Changes
Factor X deficiency
At least 130 mutations in the F10 gene have been found to cause a rare bleeding disorder called factor X deficiency. This disorder commonly causes nosebleeds, easy bruising, bleeding under the skin, bleeding of the gums, blood in the urine (hematuria), and prolonged or excessive bleeding following surgery or trauma. Some F10 gene mutations that cause factor X deficiency reduce the amount of coagulation factor X in the bloodstream, resulting in a form of the disorder called type I. Other F10 gene mutations result in the production of a coagulation factor X protein with impaired function, leading to type II factor X deficiency. Reduced quantity or function of coagulation factor X prevents blood from clotting normally, causing episodes of abnormal bleeding that can be severe.
More About This Health ConditionOther Names for This Gene
- autoprothrombin III
- prothrombinase
- Prower factor
- Stuart factor
- Stuart-Prower factor
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Brown DL, Kouides PA. Diagnosis and treatment of inherited factor X deficiency. Haemophilia. 2008 Nov;14(6):1176-82. doi: 10.1111/j.1365-2516.2008.01856.x. Citation on PubMed
- Girolami A, Scarparo P, Scandellari R, Allemand E. Congenital factor X deficiencies with a defect only or predominantly in the extrinsic or in the intrinsic system: a critical evaluation. Am J Hematol. 2008 Aug;83(8):668-71. doi: 10.1002/ajh.21207. Citation on PubMed
- Girolami A, Vettore S, Scarparo P, Lombardi AM. Persistent validity of a classification of congenital factor X defects based on clotting, chromogenic and immunological assays even in the molecular biology era. Haemophilia. 2011 Jan;17(1):17-20. doi: 10.1111/j.1365-2516.2010.02328.x. Citation on PubMed
- Herrmann FH, Auerswald G, Ruiz-Saez A, Navarrete M, Pollmann H, Lopaciuk S, Batorova A, Wulff K; Greifswald Factor X Deficiency Study Group. Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene. Haemophilia. 2006 Sep;12(5):479-89. doi: 10.1111/j.1365-2516.2006.01303.x. Citation on PubMed
- Karimi M, Menegatti M, Afrasiabi A, Sarikhani S, Peyvandi F. Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency. Haematologica. 2008 Jun;93(6):934-8. doi: 10.3324/haematol.12211. Epub 2008 Apr 9. Citation on PubMed
- Menegatti M, Peyvandi F. Factor X deficiency. Semin Thromb Hemost. 2009 Jun;35(4):407-15. doi: 10.1055/s-0029-1225763. Epub 2009 Jul 13. Citation on PubMed
- Uprichard J, Perry DJ. Factor X deficiency. Blood Rev. 2002 Jun;16(2):97-110. doi: 10.1054/blre.2002.0191. Citation on PubMed
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