Complement Factor 1 (CFI) ELISA Kit for Human

CFI: Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein and factor H respectively. Defects in CFI are a cause of susceptibility to hemolytic uremic syndrome atypical type 3 (AHUS3). An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. Susceptibility to the development of atypical hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the complement cascade system. Other genes may play a role in modifying the phenotype. Defects in CFI are the cause of complement factor I deficiency (CFI deficiency). CFI deficiency is an autosomal recessive condition associated with a propensity to pyogenic infections. Belongs to the peptidase S1 family.

Protein type: EC 3.4.21.45; Secreted, signal peptide; Secreted; Protease

Cellular Component: extracellular space; membrane; nucleus

Molecular Function: metal ion binding; serine-type endopeptidase activity; scavenger receptor activity

Biological Process: receptor-mediated endocytosis; innate immune response; proteolysis; complement activation, classical pathway