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C97210Level 4

CFH wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CFH wild-type allele is located in the vicinity of 1q32 and is approximately 96 kb in length. This allele, which encodes complement factor H protein, plays a role in the regulation of complement-mediated immunity. Mutation of the gene is associated with basal laminar drusen, complement factor H deficiency, hemolytic uremic syndrome atypical type 1, and age-related macular degeneration type 4.

**Synonyms:** - AHUS1 - AMBP1 - ARMD4 - ARMS1 - Adrenomedullin Binding Protein Gene - Age-Related Maculopathy Susceptibility 1 Gene - Beta-1-H-Globulin Gene - Beta-1H Gene - CFHL3 - Complement Factor H wt Allele - FH - FHL1 - Factor H Gene - H Factor 1 (Complement) Gene - H Factor 2 (Complement) Gene - HF - HF1 - HF2 - HUS - MGC88246 - RP1-177P10.1

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