Gene: CFHR3

Alternate names for this Gene: 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 different isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1q31.3

Description of this Gene: complement factor H related 3

Type of Gene: protein-coding

rs411854 in CFHR3 gene and Age related macular degeneration PMID 23326517 2013 Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.

rs426736 in CFHR3 gene and Meningococcal Infections PMID 20694013 2010 Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.