BC111773
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
64,419 Da
NCBI Official Full Name
Homo sapiens complement factor H-related 5, mRNA
NCBI Official Synonym Full Names
complement factor H related 5
NCBI Protein Information
complement factor H-related protein 5
UniProt Protein Name
Complement factor H-related protein 5
UniProt Synonym Gene Names
UniProt Entry Name
FHR5_HUMAN
NCBI Summary for CFHR5
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]
UniProt Comments for CFHR5
CFHR5: Involved in complement regulation. Defects in CFHR5 have been found in patients with atypical hemolytic uremic syndrome and may contribute to the disease. Atypical hemolytic uremic syndrome is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. Susceptibility to the development of atypical hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the complement cascade system. Other genes may play a role in modifying the phenotype.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 1q31.3
Disease: Cfhr5 Deficiency
Research Articles on CFHR5
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Diseases associated with CFHR5 cdna clone
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