CFHR3, Official Symbol CFHR3provided by HGNC Official Full Name complement factor H related 3provided by HGNC Primary source HGNC:HGNC:16980 See related Ensembl:ENSG00000116785 MIM:605336; AllianceGenome:HGNC:16980 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FHR3; HLF4; CFHL3; FHR-3; DOWN16 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] Expression Restricted expression toward liver (RPKM 41.2) See more Orthologs all