Health / Medical Topics |
CFH wt Allele
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. (NCI Thesaurus)
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