Description
Product Characteristics:
Aliases: AHUS3 antibody, ARMD13 antibody, C3b INA antibody, C3b inactivator antibody, C3B/C4B inactivator antibody, C3BINA antibody, CFAI_HUMAN antibody, Cfi antibody, Complement component I antibody, Complement control protein factor I antibody, Complement factor I antibody, Complement factor I heavy chain antibody, Complement factor I light chain antibody, F1 antibody, factor I antibody, FactorI antibody, FI antibody, I factor antibody, IF antibody, KAF antibody, Konglutinogen activating factor antibody, Light chain of factor I antibody, OTTHUMP00000219728 antibody, OTTHUMP00000221928 antibody
Target Information: This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uraemic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immmune deposits is another condition associated with mutation of this gene. [provided by RefSeq, Jul 2008]