信号通路： Complement and coagulation cascades;Systemic lupus erythematosus;
功能： catalytic activity:Selective cleavage of Arg-|-Ser bond in complement component C3 alpha-chain to form C3a and C3b, and Arg-|-Xaa bond in complement component C5 alpha-chain to form C5a and C5b.,disease:Defects in C2 are the cause of C2 deficiency (CD2D) [MIM:217000]. CD2D is an autosomal recessive disease. Deficient individuals have an increased incidence of SLE and SLE-like syndromes, glomerulonephritis, vasculitis and pyogenic infections. Type I C2D is characterized by complete loss of the protein while type II C2D is characterized by a selective block in C2 secretion.,function:Component C2 which is part of the classical pathway of the complement system is cleaved by activated factor C1 into two fragments: C2b and C2a. C2a, a serine protease, then combines with complement factor 4b to generate the C3 or C5 convertase.,miscellaneous:C2 is a major histocompatibility complex class-III protein.,online information:C2 mutation db,polymorphism:The variant Asp-318 is associated with a reduced risk of age-related macular degeneration (ARMD) [MIM:603075]. ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world.,similarity:Belongs to the peptidase S1 family.,similarity:Contains 1 peptidase S1 domain.,similarity:Contains 1 VWFA domain.,similarity:Contains 3 Sushi (CCP/SCR) domains.,
信号通路： Complement and coagulation cascades;Systemic lupus erythematosus;
功能： catalytic activity:Selective cleavage of Arg-|-Ser bond in complement component C3 alpha-chain to form C3a and C3b, and Arg-|-Xaa bond in complement component C5 alpha-chain to form C5a and C5b.,disease:Defects in C2 are the cause of C2 deficiency (CD2D) [MIM:217000]. CD2D is an autosomal recessive disease. Deficient individuals have an increased incidence of SLE and SLE-like syndromes, glomerulonephritis, vasculitis and pyogenic infections. Type I C2D is characterized by complete loss of the protein while type II C2D is characterized by a selective block in C2 secretion.,function:Component C2 which is part of the classical pathway of the complement system is cleaved by activated factor C1 into two fragments: C2b and C2a. C2a, a serine protease, then combines with complement factor 4b to generate the C3 or C5 convertase.,miscellaneous:C2 is a major histocompatibility complex class-III protein.,online information:C2 mutation db,polymorphism:The variant Asp-318 is associated with a reduced risk of age-related macular degeneration (ARMD) [MIM:603075]. ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world.,similarity:Belongs to the peptidase S1 family.,similarity:Contains 1 peptidase S1 domain.,similarity:Contains 1 VWFA domain.,similarity:Contains 3 Sushi (CCP/SCR) domains.,
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