Description

The F8 gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, that functions in the blood coagulation cascade as a cofactor for the factor IXa (OMIM: 300746)-dependent activation of factor X (F10; OMIM: 613872). Factor VIII is activated proteolytically by a variety of coagulation enzymes, including thrombin (F2; OMIM: 176930). Transcript variant 2 encodes a small protein, isoform b, which consists primarily of the phospholipid binding domain which is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder (Viel et al., 2009).

External Information

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