This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder.
AHF; Antihemophilic factor; Coagulation factor VIII; coagulation factor VIII A1 domain; coagulation factor VIII C2 domain; coagulation factor VIII, procoagulant component; coagulation factor VIII, procoagulant component (hemophilia A); coagulation factor VIIIc; factor VIII; factor VIII F8B; Procoagulant component; RP11-115M6.7, AHF, DXS1253E, F8B, F8C, FVIII, HEMA,antihemophilic factor
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