F8
LOCUS ID2157
GENE_SYMBOLF8
GENE NAMEcoagulation factor VIII, procoagulant component
SYNONYMNSAHF,F8B,F8C,HEMA,FVIII,DXS1253E
CHROMOSOMEX
HOMOLOGENE ID49153
microRNAsNANA
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, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Neuropathy1. Diabetics with neuropathy showed significantly elevated FVIII and vWF in comparison with diabetics without neuropathy and controls.8403679