F8 (coagulation factor VIII, procoagulant component)

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Keyword

Gene: F8 (coagulation factor VIII, procoagulant component) Homo sapiens

Symbol:

Name:

coagulation factor VIII, procoagulant component

Description:

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]

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

AHF; antihemophilic factor; coagulation factor VIII; coagulation factor VIIIc; DXS1253E; F8B; F8C; factor VIII F8B; FVIII; HEMA; OTTHUMP00000024269; OTTHUMP00000196174

Orthologs:

Mus musculus : F8 (coagulation factor VIII) MGI
Rattus norvegicus : F8 (coagulation factor VIII, procoagulant component)

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	X	153,932,641 - 154,119,640	-	NCBI
Human Genome Assembly HuRef	X	142,607,715 - 142,796,096	-	NCBI
Human Genome Assembly GRCh37	X	154,064,063 - 154,250,998	-	NCBI
Human Genome Assembly Build 36	X	153,717,260 - 153,904,192	-	NCBI
Human Cytogenetic Map	X	q28		NCBI
Human Genome Assembly	X	153,627,773 - 153,678,176		NCBI