F8 Gene
The F8 gene provides instructions for making a protein called coagulation factor VIII. Coagulation factors are a group of related proteins that are essential for the formation of blood clots. After an injury, clots protect the body by sealing off damaged blood vessels and preventing further blood loss. Hemophilia is a rare disorder in which your blood does not clot normally because it lacks sufficient blood-clotting proteins. If you have hemophilia, you may bleed for a longer time after an injury than you would if your blood clotted normally. Truncating mutations in the F8 gene is the basis for hemophilia A. CG to TG transitions in an exon in 9 are missense mutations leading to severe hemophilia A.
