常规说明ab94092 is a 293T cell transfected lysate in which Human Factor I has been transiently over-expressed using a pCMV-Factor I plasmid. The lysate is provided in 1X Sample Buffer.
Note: For more details about how the transfected lysate was prepared view preparation notes
背景Function: Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein and factor H respectively.
Tissue specificity: Plasma.
Disease: Defects in CFI are a cause of susceptibility to hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]. 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. Note=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) [MIM:610984]. CFI deficiency is an autosomal recessive condition associated with a propensity to pyogenic infections.
Similarity: Belongs to the peptidase S1 family.
Contains 1 Kazal-like domain.
Contains 2 LDL-receptor class A domains.
Contains 1 peptidase S1 domain.
Contains 1 SRCR domain.