Aliases for F8 Gene
External Ids for F8 Gene
Previous HGNC Symbols for F8 Gene
Previous GeneCards Identifiers for F8 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for F8 Gene
F8 (Coagulation Factor VIII) is a Protein Coding gene. Diseases associated with F8 include Hemophilia A and Severe Hemophilia A. Among its related pathways are Transport to the Golgi and subsequent modification and Formation of Fibrin Clot (Clotting Cascade). GO annotations related to this gene include oxidoreductase activity and copper ion binding. An important paralog of this gene is F5.
UniProtKB/Swiss-Prot for F8 Gene
Factor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa.