Aliases for CFHR5 Gene
External Ids for CFHR5 Gene
Previous HGNC Symbols for CFHR5 Gene
Previous GeneCards Identifiers for CFHR5 Gene
This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq, Jan 2010]
GeneCards Summary for CFHR5 Gene
CFHR5 (Complement Factor H Related 5) is a Protein Coding gene. Diseases associated with CFHR5 include Nephropathy Due To Cfhr5 Deficiency and Dense Deposit Disease/Membranoproliferative Glomerulonephritis Type Ii. An important paralog of this gene is ENSG00000276911.
UniProtKB/Swiss-Prot for CFHR5 Gene
Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH.