Aliases for CFHR3 Gene
External Ids for CFHR3 Gene
Previous HGNC Symbols for CFHR3 Gene
Previous GeneCards Identifiers for CFHR3 Gene
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]
GeneCards Summary for CFHR3 Gene
CFHR3 (Complement Factor H Related 3) is a Protein Coding gene. Diseases associated with CFHR3 include Hemolytic Uremic Syndrome, Atypical 1 and Macular Degeneration, Age-Related, 1. Among its related pathways are Immune System and Creation of C4 and C2 activators. An important paralog of this gene is ENSG00000276911.
UniProtKB/Swiss-Prot for CFHR3 Gene
Might be involved in complement regulation.