Factor XII heavy chain: Proteins and Enzymes

The F12 gene encodes a 615 amino acid long, 67 kDA serum glycoprotein coagulation factor XII that is eventually cleaved into four chains. Factor XII functions in the initiation of blood coagulation, fibrinolysis, as well as in the creation of bradykinin and angiotension. F12 participates in cell adhesion plasmin signaling, blood coagulation signaling pathways, MSP-RON signaling, intrinsic prothrombin activation pathways, and blood clotting cascades. It interacts with Genes CD93, MMP13, EPAS1, APP, and KLKB1. Defects in F12 lead to factor Xii deficiency (Hageman factor deficiency) as well as hereditary angioedema type 3 (estrogen-related HAE). F12 is also associated with blood clots, acute myocardial infarction, thrombosis, spastic paraplegia, angiodema, retinal vein occlusion, arterial calcification, heart disease, C1 inhibitor deficiency, hemorrhagic disease, and acalculous cholecystitis.