cfi antikoerper, MGC53615 antikoerper, Cfi antikoerper, factor I antikoerper, IF antikoerper, gb:ai721528 antikoerper, ahus3 antikoerper, c3b-ina antikoerper, c3bc4bi antikoerper, c3bina antikoerper, kaf antikoerper, CFI antikoerper, AHUS3 antikoerper, C3BINA antikoerper, C3b-INA antikoerper, FI antikoerper, KAF antikoerper, complement factor I S homeolog antikoerper, complement factor I L homeolog antikoerper, complement factor I antikoerper, complement component factor i antikoerper, cfi.S antikoerper, cfi.L antikoerper, CFI antikoerper, cfi antikoerper, Cfi antikoerper
Hintergrund
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 uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene.