Aliases for SERPING1 Gene
External Ids for SERPING1 Gene
Previous HGNC Symbols for SERPING1 Gene
Previous GeneCards Identifiers for SERPING1 Gene
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]
GeneCards Summary for SERPING1 Gene
SERPING1 (Serpin Family G Member 1) is a Protein Coding gene. Diseases associated with SERPING1 include Angioedema, Hereditary, Types I And Ii and Complement Component 4, Partial Deficiency Of. Among its related pathways are Formation of Fibrin Clot (Clotting Cascade) and Response to elevated platelet cytosolic Ca2+. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINF2.
UniProtKB/Swiss-Prot for SERPING1 Gene
Activation of the C1 complex is under control of the C1-inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein.