F8

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]

Description

Coagulation factor VIII

Tissue specificity

Tissue enhanced (heart muscle)

Predicted location

Intracellular, Secreted to blood

Protein family

Candidate cardiovascular disease genes
Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (154835788 - 155026940)

Ensembl ID

ENSG00000185010  (ver. 103.38)

Orthologs

Mouse F8: ENSMUSG00000031196

UniProt

P00451

neXtProt

NX_P00451

Human splice variants
Mouse splice variants

Protein structure