F5 Gene: Coagulation Factor V - Function, Mutations, and Disease

The F5 gene encodes coagulation factor V, a critical glycoprotein in the blood coagulation cascade. Factor V circulates as an inactive procofactor and is activated by thrombin or factor Xa to form factor Va, which acts as a cofactor for the prothrombinase complex, accelerating the conversion of prothrombin to thrombin. Mutations in F5, particularly the factor V Leiden variant (p.Arg534Gln), cause activated protein C resistance and increase the risk of venous thromboembolism. Loss-of-function mutations lead to factor V deficiency (parahemophilia), a rare bleeding disorder.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• KEGG hsa04610 - Complement and coagulation cascades

• Reactome R-HSA-140877 - Formation of Fibrin Clot (Clotting Cascade)

• Reactome R-HSA-76009 - Platelet Aggregation (Plug Formation)

Coagulation factor V is a large multidomain glycoprotein (2224 amino acids, ~330 kDa) synthesized primarily in the liver and stored in platelet alpha granules. It circulates as an inactive procofactor and is activated by limited proteolysis by thrombin or factor Xa. Activated factor Va binds to factor Xa on phospholipid surfaces to form the prothrombinase complex, which converts prothrombin to thrombin. Factor V is inactivated by activated protein C. The factor V Leiden variant (p.Arg534Gln) is the most common inherited thrombophilia in Caucasians.