Gene Symbol | SERPING1 |
Entrez Gene ID | 710 |
Full Name | serpin family G member 1 |
Synonyms | C1IN,C1INH,C1NH,HAE1,HAE2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Angioedema, hereditary, types I and II, 106100 (3); Complement component 4, partial deficiency of, 120790 (3) |