The F5 gene encodes a 2,224 amino acid long, 251 kDA coagulation factor V protein that is critical in the regulation of homeostasis. Additionally, F5 functions as a cofactor for the prothrombinase activity of factor Xa which results in the initiation of prothrombin to thrombin. F5 participates in blood coagulation signaling pathways, the blood clotting cascade, platelet degranulation as well as activation, signaling, and aggregation, and in responses to elevated platelet cytosolic Ca2+. It interacts with genes PROC, PROS1, F2, MMRN1, and CALR. Defects in F5 cause factor 5 deficiency (owren parahemophilia), thrombophilia due to activated protein C resistance, susceptibility to Budd-Chiari syndrome, susceptibility to ischemic strokes, and susceptibility to pregnancy loss, recurrent, type 1. F5 is also linked to deep vein thrombosis, antithrombin III deficiency, retinal vein occlusion, legg-calve-perthes disease, liver disease, hypertension, pulmonary embolism, lupus, and patent foramen ovale.
|Product By Gene ID
- factor V Leiden
- coagulation factor V jinjiang A2 domain
- Proaccelerin, labile factor
- coagulation factor V
- Activated protein C cofactor
- coagulation factor V (proaccelerin, labile factor)
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