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Component C2 is a serum glycoprotein that functions aspart of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: C3/C5 convertase; Complement C2; complement component C2; DADB-122G4.1
基因别名: ARMD14; C2; CO2
UniProt ID: (Human) P06681
Entrez Gene ID: (Human) 717