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Gene: F8 (coagulation factor VIII) Homo sapiens
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Symbol: F8
Name: coagulation factor VIII
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 A1 domain; coagulation factor VIII C2 domain; coagulation factor VIII, procoagulant component; coagulation factor VIIIc; DXS1253E; F8B; F8C; factor VIII F8B; FVIII; HEMA
Orthologs:
Mus musculus (house mouse) : F8 (coagulation factor VIII)  MGI  Alliance
Rattus norvegicus (Norway rat) : F8 (coagulation factor VIII)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : F8 (coagulation factor VIII)
Pan paniscus (bonobo/pygmy chimpanzee) : F8 (coagulation factor VIII)
Canis lupus familiaris (dog) : F8 (coagulation factor VIII)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : F8 (coagulation factor VIII)
Sus scrofa (pig) : F8 (coagulation factor VIII)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X154,835,788 - 155,022,723 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X154,064,063 - 154,255,351 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,717,260 - 153,904,192 (-)NCBINCBI36hg18NCBI36
Build 34X153,627,773 - 153,678,176NCBI
CeleraX154,222,608 - 154,409,733 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,607,715 - 142,796,096 (-)NCBIHuRef
CHM1_1X153,975,773 - 154,162,623 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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