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F10 coagulation factor X

Gene ID: 2159, updated on 8-Jul-2021
Gene type: protein coding
Also known as: FX; FXA

Summary

This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two chains of the factor are held together by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while the heavy chain contains the catalytic domain which is structurally homologous to those of the other hemostatic serine proteases. The mature factor is activated by the cleavage of the activation peptide by factor IXa (in the intrisic pathway), or by factor VIIa (in the extrinsic pathway). The activated factor then converts prothrombin to thrombin in the presence of factor Va, Ca+2, and phospholipid during blood clotting. Mutations of this gene result in factor X deficiency, a hemorrhagic condition of variable severity. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.
GeneReviews: Not available
Hereditary factor X deficiency disease
MedGen: C0272327OMIM: 227600GeneReviews: Not available
See labs
Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
GeneReviews: Not available

Genomic context

Location:
13q34
Sequence:
Chromosome: 13; NC_000013.11 (113122799..113149529)
Total number of exons:
8

Links

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