SERPINC1 serpin family C member 1
Gene ID: 462, updated on 23-Mar-2024Gene type: protein coding
Also known as: AT3; AT3D; ATIII; THPH7; ATIII-R2; ATIII-T1; ATIII-T2
- See all available tests in GTR for this gene
- Go to complete Gene record for SERPINC1
- Go to Variation Viewer for SERPINC1 variants
Summary
The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Sep 2020]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hereditary antithrombin deficiency | See labs |
Genomic context
- Location:
- 1q25.1
- Sequence:
- Chromosome: 1; NC_000001.11 (173903800..173917327, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SERPINC1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- SERPINC1 database
- Variation ViewerRelated Variants
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