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Gene information for F8 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID2157
Official gene symbolF8
Full namecoagulation factor VIII, procoagulant component
Aliases,AHF,DXS1253E,F8B,F8C,FVIII,HEMA,
Gene summaryThis 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]
LocationChromosome: X   Locus: Xq28
Gene position154250998 - 154064063  Map Viewer
Gene orientationminus
Gene size186936 bp
Gene sequence
OMIM ID306700