Entrez gene ID | | 2157 |
Official gene symbol | | F8 |
Full name | | coagulation factor VIII, procoagulant component |
Aliases | | ,AHF,DXS1253E,F8B,F8C,FVIII,HEMA, |
Gene summary | | 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] |
Location | | Chromosome: X Locus: Xq28 |
Gene position | | 154250998 - 154064063 Map Viewer |
Gene orientation | | minus |
Gene size | | 186936 bp |
Gene sequence |
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OMIM ID | | 306700 |
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