anticorps cfi, anticorps MGC53615, anticorps Cfi, anticorps factor I, anticorps IF, anticorps gb:ai721528, anticorps ahus3, anticorps c3b-ina, anticorps c3bc4bi, anticorps c3bina, anticorps kaf, anticorps CFI, anticorps AHUS3, anticorps C3BINA, anticorps C3b-INA, anticorps FI, anticorps KAF, anticorps complement factor I S homeolog, anticorps complement factor I L homeolog, anticorps complement factor I, anticorps complement component factor i, anticorps cfi.S, anticorps cfi.L, anticorps CFI, anticorps cfi, anticorps Cfi
Sujet
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.