C178648Level 6
CFB wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human CFB wild-type allele is located in the vicinity of 6p21.33 and is approximately 6 kb in length. This allele, which encodes complement factor B protein, is involved in convertase activity associated with complement activation. Mutation of the gene is associated with complement deficiency, decreased risk for age-related macular degeneration and increased susceptibility to atypical hemolytic uremic syndrome.
**Synonyms:** - AHUS4 - ARMD14 - B-Factor, Properdin Gene - BF - BFD - CFAB - CFBD - Complement Factor B wt Allele - FB - FBI12 - GBG - H2-Bf - PBF2
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Cross-system equivalences0
No cross-system equivalences mapped for this node.