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.
Activated protein C cofactor; Coagulation factor V; coagulation factor V (proaccelerin, labile factor); Coagulation factor V heavy chain; coagulation factor V jinjiang A2 domain; Coagulation factor V light chain; factor V Leiden; Proaccelerin, labile factor
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