Gene Symbol | CFHR3 |
Entrez Gene ID | 10878 |
Full Name | complement factor H related 3 |
Synonyms | CFHL3,DOWN16,FHR-3,FHR3,HLF4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | {Macular degeneration, age-related, reduced risk of}, 603075 (3); {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3) |