Cellophane maculopathy
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.
Disease Alternative Name
hf
fh
hus
ambp1
factor h gene
mgc88246
arms1
beta-1-h-globulin gene
cfh wt allele
age-related maculopathy susceptibility 1 gene
beta-1h gene
h factor 2 (complement) gene
hf1
complement factor h wt allele
cfhl3
h factor 1 (complement) gene
rp1-177p10.1
hf2
adrenomedullin binding protein gene
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