F10

Chr 13AR

coagulation factor X

Also known as: FX, FXA

NCBI Gene: 2159 ENSG00000126218 UniProt: P00742 OMIM: 613872

Factor X is a vitamin K-dependent serine protease that converts prothrombin to thrombin during blood coagulation and activates pro-inflammatory signaling pathways through protease-activated receptors. Mutations cause factor X deficiency, an autosomal recessive bleeding disorder with variable severity ranging from mild bruising to life-threatening hemorrhage. The gene shows very low constraint against loss-of-function variants (pLI near 0), consistent with recessive inheritance where heterozygous carriers are typically unaffected.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…