F7 Gene - Coagulation Factor VII | Function, Mutations & Disease

The F7 gene encodes coagulation factor VII, a vitamin K-dependent serine protease that initiates the extrinsic coagulation cascade. Factor VII circulates as a zymogen and is activated to factor VIIa by thrombin, factor Xa, or factor IXa. The activated form binds to tissue factor (TF) to form a complex that activates factor X and factor IX, leading to thrombin generation and fibrin clot formation. Mutations in F7 cause factor VII deficiency, a rare autosomal recessive bleeding disorder, and polymorphisms influence warfarin sensitivity and thrombotic risk.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Extrinsic coagulation pathway (Reactome: R-HSA-140837)

• Vitamin K metabolism (Reactome: R-HSA-6803544)

• Formation of fibrin clot (Reactome: R-HSA-140877)

Coagulation factor VII is a 50 kDa vitamin K-dependent glycoprotein synthesized in the liver and secreted into plasma. It consists of an N-terminal Gla domain, two epidermal growth factor-like domains, and a C-terminal serine protease domain. Upon binding to tissue factor at sites of vascular injury, factor VIIa initiates the coagulation cascade by activating factor X and factor IX. The protein is essential for hemostasis; deficiency leads to bleeding diathesis, while elevated levels are associated with thrombosis.