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F8 Gene
Definition and Synonyms

Definition: Expressed in the liver, human F8 Gene encodes 2351-aa 267-kDa (precursor) Coagulation Factor VIII, an extracellular antihemophilic factor with strong similarity to Coagulation Factor V that contains 3 F5/8 type A domains and 2 F5/8 type C domains and acts in the intrinsic blood coagulation pathway. Essential for Factor VIII activity, the F5/8 Type C 2 domain is responsible for phospholipid-binding. Alternative transcript Variant 1 encodes large glycoprotein isoform A that circulates in plasma noncovalently associated with von Willebrand factor and undergoes multiple cleavage events. Transcript Variant 2 encodes small isoform B consisting primarily of the Factor VIIIc phospholipid binding domain. Factor VIII acts as a cofactor (enhanced by thrombin) for Factor IXa, which, with Ca+2 and phospholipids, converts Factor X to activated Xa. F8 defects cause of hemophilia A. (NCI)

Synonyms: F8 Gene, AHF, DXS1253E, F8, F8B, F8C, FVIII, HEMA

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