F12

F12 encodes coagulation factor XII, also known as Hageman factor. This protein is a key component in the intrinsic pathway of blood coagulation. It is synthesized in the liver and circulates in the blood as an inactive zymogen. Once activated, factor XII initiates a cascade of reactions that lead to the formation of a blood clot. It is involved in the kallikrein - kinin system and the fibrinolytic pathway as well.
Mutations in the F12 gene can lead to hereditary angioedema type III and increased risk of thromboembolic diseases. Regarding drug development, efforts are underway to develop inhibitors of factor XII to prevent excessive blood clotting, which could be useful in treating and preventing conditions like deep vein thrombosis and stroke.