Full Name: Complement Factor H Related 3
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.
Synonyms: CFHL3; DOWN16; FHR-3; FHR3; HLF4
Research Areas: Cell Biology
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