GeneID: 182


Common Name: SERPINC1 Type: Gene
Chromosome: 1 (NC_000001.11) Locus: NG_012462.1 (SERPINC1)
HUGO Symbol: SERPINC1 Full Name: serpin family C member 1
Exons: 7 Introns: 6

The SERPINC1 gene encodes antithrombin III, member of a superfamily of protease inhibitors called serpins. The encoded protein is synthesized and secreted by hepatocytes. It binds polysulfated glycosaminoglycans, such as heparin, and regulates the blood coagulation cascade via inhibition of procoagulant serine proteases, including thrombin (factor IIa) and factor Xa. The major functional domains include the active site region and the heparin binding domain encoded by exon 6 and exon 2, respectively. Mutations in this gene cause Hereditary antithrombin III deficiency with an increased risk of recurrent venous thromboembolism (VT) including deep vein thrombosis (DVT) and pulmonary embolism. A polymoprhism in this gene presents a risk factor of venous thrombosis in patients with HbH disease.

Synonyms: AT3 , AT3D , ATIII , THPH7


Number of entries/variants: 2


Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage.

Publications / Origin

  1. Tyler-Cross R, Sobel M, McAdory LE, Harris RB, Structure-function relations of antithrombin III-heparin interactions as assessed by biophysical and biological assays and molecular modeling of peptide-pentasaccharide-docked complexes., Arch. Biochem. Biophys. , 334(2), 206-13, 1996 PubMed
  2. Yoo JH, Maeng HY, Kim HJ, Lee KA, Choi JR, Song J, A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency., Ann. Clin. Lab. Sci. , 41(1), 89-92, 2011 PubMed
  3. Sun NA, Cheng P, Deng DH, Liu RR, Lai YR, Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report., Biomed Rep , 5(1), 23-26, 2016 PubMed
Created on 2016-10-06 09:56:02, Last reviewed on (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.