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Gene Symbol |
F5 |
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Aliases |
FVL, PCCF, RPRGL1, THPH2 |
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Entrez Gene ID |
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Gene Name |
Coagulation factor V |
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Chromosomal Location |
1q24.2 |
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HGNC ID |
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Summary |
This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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Protein Information |
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Protein Name |
Coagulation factor V, activated protein c cofactor, coagulation factor V (proaccelerin, labile factor), coagulation factor V jinjiang A2 domain, factor V Leiden |
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Function |
Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin |
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UniProt |
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PDB |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000478570 |
P15692 |
P15692 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Blood Disorders |
Blood Coagulation Disorders |
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Thrombophilia |
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Cardiovascular Diseases |
Deep Vein Thrombosis |
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Pulmonary Embolism |
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Mesenteric ischemia |
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Retinal Vein Thrombosis |
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Retinal Vein Occlusion |
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Myocardial Infarction |
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Thrombophilia |
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Activated Protein C Resistance |
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Factor V Deficiency |
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Digestive System Diseases |
Liver Fibrosis |
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Acute Mesenteric Arterial Thrombosis |
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Intestinal Polyposis |
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Inflammatory Bowel Diseases |
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Liver Cirrhosis |
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Endocrine System Diseases |
PCOS |
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Neoplasms |
Colonic Neoplasms |
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Intestinal Polyposis |
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Nervous System Diseases |
Cerebral Ischemia |
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Stroke |
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Sinus Thrombophlebitis |
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Sinus Thrombosis |
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Reproductive disorders |
Preeclampsia |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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MTHFR, G20210A prothrombin,plasminogen activator inhibitor 4G/5G, and platelet glycoprotein PL A1A2 gene mutations |
Recurrent pregnancy loss |
G1691A Factor V Leiden |
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Related
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The thrombophilic G1691A Factor V Leiden mutation is associated with RPL in women with and without PCOS; hypofibrinolysis (high PAI-Fx) is also associated with RPL in women with PCOS. |
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PCOS |
G1.697A (F5), G20.210A (Prothrombin) |
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Related
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1 PCOS |
This study describes the association of pseudotumor cerebri, optic nerve demyelination, PCOS, other endocrinologic abnormalities, and thrombophilia due to a factor V and prothrombin mutation |
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