Entrez gene ID | | 710 |
Official gene symbol | | SERPING1 |
Full name | | serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 |
Aliases | | ,C1IN,C1INH,C1NH,HAE1,HAE2, |
Gene summary | | This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its protein inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. Deficiency of this protein is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq] |
Location | | Chromosome: 11 Locus: 11q12-q13.1 |
Gene position | | 57365027 - 57382326 Map Viewer |
Gene orientation | | plus |
Gene size | | 17300 bp |
Gene sequence |
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OMIM ID | | 606860 |