Entrez gene ID | | 3053 |
Official gene symbol | | SERPIND1 |
Full name | | serpin peptidase inhibitor, clade D (heparin cofactor), member 1 |
Aliases | | ,D22S673,HC2,HCF2,HCII,HLS2,LS2, |
Gene summary | | The product encoded by this gene is a serine proteinase inhibitor which rapidly inhibits thrombin in the presence of dermatan sulfate or heparin. The gene contains five exons and four introns. This protein shares homology with antithrombin III and other members of the alpha 1-antitrypsin superfamily. Mutations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq] |
Location | | Chromosome: 22 Locus: 22q11.2|22q11.21 |
Gene position | | 21128383 - 21142008 Map Viewer |
Gene orientation | | plus |
Gene size | | 13626 bp |
Gene sequence |
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OMIM ID | | 142360 |