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C198624Level 4

CFHR5 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CFHR5 wild-type allele is located in the vicinity of 1q31.3 and is approximately 35 kb in length. This allele, which encodes complement factor H-related protein 5, is involved in binding to activated complement components. Mutation of the gene is associated with nephropathy due to CFHR5 deficiency (C3 glomerulopathy 3).

**Synonyms:** - CFHL5 - CFHR5D - Complement Factor H Related 5 wt Allele - Complement Factor H-Related 5 Gene - FHR-5 - FHR5 - Factor H-Related Gene 5

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