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CFHR3


Official Full Name
complement factor H related 3
Organism
Homo sapiens
Gene ID
10878
Background
The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Synonyms
FHR3; HLF4; CFHL3; FHR-3; DOWN16

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