CFI wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - AHUS3 - ARMD13 - C3BINA - C3b-INA - C3b-Inactivator Gene - Complement Component I Gene - Complement Control Protein Factor I Gene - Complement Factor I Heavy Chain Gene - Complement Factor I wt Allele - FI - I Factor (Complement) Gene - IF - KAF - Konglutinogen-Activating Factor Gene - Light Chain of Factor I Gene