| Gene Symbol | CFHR3 |
| Entrez Gene ID | 10878 |
| Full Name | complement factor H related 3 |
| Synonyms | CFHL3,DOWN16,FHR-3,FHR3,HLF4 |
| General protein information |
|
| 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) |









































User Manual