Gene: F10

Alternate names for this Gene: FX|FXA

Gene 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.

Gene is located in Chromosome: 13

Location in Chromosome : 13q34

Description of this Gene: coagulation factor X

Type of Gene: protein-coding

rs547138 in F10 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs3211770 in F10 gene and Coagulation factor measurement PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.

rs474671 in F10 gene and Factor VII measurement PMID 28240269 2017 Connecting genetic risk to disease end points through the human blood plasma proteome.

rs104894392 in F10 gene and Factor X Deficiency PMID 8529633 1995 Functional consequences of the Ser334-->Pro mutation in a human factor X variant (factor XMarseille).

PMID 25313940 2014 Molecular dynamics characterization of five pathogenic Factor X mutants associated with decreased catalytic activity.

PMID 10739379 2000 The impact of Glu102Lys on the factor X function in a patient with a doubly homozygous factor X deficiency (Gla14Lys and Glu102Lys).

PMID 26222694 2015 Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency.

PMID 15650540 2005 Genetic analysis of hereditary factor X deficiency in a French patient of Sri Lankan ancestry: in vitro expression study identified Gly366Ser substitution as the molecular basis of the dysfunctional factor X.

PMID 19135706 2009 Characterization of a homozygous Gly11Val mutation in the Gla domain of coagulation factor X.

PMID 12574802 2003 Impaired prothrombinase activity of factor X Gly381Asp results in severe familial CRM+ FX deficiency.

PMID 2790181 1989 Molecular characterization of human factor XSan Antonio.

PMID 7669671 1995 Molecular bases of CRM+ factor X deficiency: a frequent mutation (Ser334Pro) in the catalytic domain and a substitution (Glu102Lys) in the second EGF-like domain.

PMID 10468877 1999 A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo).

PMID 10746568 2000 Molecular analysis of the genotype-phenotype relationship in factor X deficiency.

PMID 1973167 1990 "Molecular defect (Gla+14----Lys) and its functional consequences in a hereditary factor X deficiency (factor X ""Vorarlberg"")."

PMID 11728527 2001 A new factor X defect (factor X Padua 3): a compound heterozygous between true deficiency (Gly(380)-->Arg) and an abnormality (Ser(334)-->Pro).

PMID 7860069 1995 Factor XKetchikan: a variant molecule in which Gly replaces a Gla residue at position 14 in the light chain.

PMID 11248282 2001 A dysfunctional factor X (factor X San Giovanni Rotondo) present at homozygous and double heterozygous level: identification of a novel microdeletion (delC556) and missense mutation (Lys(408)-->Asn) in the factor X gene. A study of an Italian family.

PMID 12945883 2003 A novel type I factor X variant (factor X Cys350Phe) due to loss of a disulfide bond in the catalytic domain.

PMID 17393015 2007 Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly.

PMID 15075089 2004 Molecular characterization of factor X deficiency associated with borderline plasma factor X level.

PMID 8845463 1996 Factor X Stockton: a mild bleeding diathesis associated with an active site mutation in factor X.

PMID 8910490 1996 Factor XSt. Louis II. Identification of a glycine substitution at residue 7 and characterization of the recombinant protein.

PMID 26222694 2015 Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency.

rs7337258 in F10 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs3211752 in F10 gene and Venous Thromboembolism PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

rs2026160 in F10 gene and von Willebrand's factor (lab test) PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.