C124882Level 4
CFHR1 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human CFHR1 wild-type allele is located in the vicinity of 1q32 and is approximately 12 kb in length. This allele, which encodes complement factor H-related protein 1, is involved in the modulation of complement activity. Mutation of the gene is associated with atypical hemolytic-uremic syndrome and age-related macular degeneration.
**Synonyms:** - CFHL - CFHL1 - CFHL1P - CFHR1P - Complement Factor H-Related 1 Pseudogene - Complement Factor H-Related 1 wt Allele - FHR1 - Factor H-Related Gene 1 - H Factor (Complement)-Like 1 Gene - H Factor (Complement)-Like 2 Gene - H36-1 - H36-2 - HFL1 - HFL2
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