Entrez gene ID | | 10878 |
Official gene symbol | | CFHR3 |
Full name | | complement factor H-related 3 |
Aliases | | ,CFHL3,DOWN16,FHR-3,FHR3,HLF4, |
Gene 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 diferent isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1q32 |
Gene position | | 196743930 - 196763203 Map Viewer |
Gene orientation | | plus |
Gene size | | 19274 bp |
Gene sequence |
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OMIM ID | | 605336 |