F10 coagulation factor X
Gene ID: 2159, updated on 5-Mar-2024Gene type: protein coding
Also known as: FX; FXA
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- Go to complete Gene record for F10
- Go to Variation Viewer for F10 variants
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
Description | Tests |
---|---|
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 | 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
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for F10 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- F10 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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