Entity Details

Primary name F8
Entity type gene
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Details

PrimaryID2157
RefseqGeneNG_011403
SymbolF8
Namecoagulation factor VIII
ChromosomeX
LocationXq28
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-10-24
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsFA8_HUMAN

GO terms

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GOName
GO:0002576 platelet degranulation
GO:0005507 copper ion binding
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0005796 Golgi lumen
GO:0005886 plasma membrane
GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport
GO:0006953 acute-phase response
GO:0007596 blood coagulation
GO:0007597 blood coagulation, intrinsic pathway
GO:0016491 oxidoreductase activity
GO:0030134 COPII-coated ER to Golgi transport vesicle
GO:0031093 platelet alpha granule lumen
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0048208 COPII vesicle coating
GO:2000267 negative regulation of blood coagulation, intrinsic pathway

Diseases

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Disease IDSourceNameDescription
306700 OMIMHemophilia A (HEMA)A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery. The disease is caused by variants affecting the gene represented in this entry. Of particular interest for the understanding of the function of F8 is the category of CRM (cross-reacting material) positive patients (approximately 5%) that have considerable amount of F8 in their plasma (at least 30% of normal), but the protein is non-functional; i.e. the F8 activity is much less than the plasma protein level. CRM-reduced is another category of patients in which the F8C antigen and activity are reduced to approximately the same level. Most mutations are CRM negative, and probably affect the folding and stability of the protein.