NCIt synonyms : AHUS3; Konglutinogen-Activating Factor Gene; KAF; Complement Factor I wt Allele; Complement Factor I Heavy Chain Gene; Light Chain of Factor I Gene; IF; C3b-Inactivator Gene; I Factor (Complement) Gene; C3b-INA; Complement Control Protein Factor I Gene; FI; Complement Component I Gene; C3BINA; ARMD13;
NCIt definition : Human CFI wild-type allele is located in the vicinity of 4q25 and is approximately
71 kb in length. This allele, which encodes complement factor I protein, plays a role
in the downregulation of complement pathway activity. Mutations in the gene are associated
with complement factor I deficiency (C3 glomerulopathy 2), atypical hemolytic uremic
syndrome 3 and age-related macular degeneration 13.;