Recombinant Human Complement factor H-related protein 5 (CFHR5)

1. Novel genetic rearrangement generated from a heterozygous deletion spanning 146 Kbp involving multiple CFHR genes leading to a CFHR1-R5 hybrid protein. This deletion was found in four family members presenting with a familial dominant glomerulopathy. PMID: 28729035
2. Higher serum FHR-5 levels were associated with a lack of response to immunosuppression, the presence of endocapillary hypercellularity, and histology scores of IgA nephropathy severity. PMID: 28673452
3. Our study found that rare variants in CFHR5 may contribute to the genetic susceptibility to IgA Nephropathy, which suggests that CFHR5 is an IgA Nephropathy susceptibility gene PMID: 26825529
4. Next-generation sequencing of the CFH region identified putatively functional variants (missense, splice site and indel) on the four common haplotypes. We found no expression of any of the five CFH-related genes in the retina or RPE/Choroid/Sclera, in contrast to the liver, which is the main source of the circulating proteins. [CFHR5] PMID: 27196323
5. Studies indicate that complement factor H-related proteins (FHR1-5) may enhance complement activation, with important implications for the role of these proteins in disease. PMID: 25979655
6. In this study, we identify pentraxin 3 (PTX3) as a novel ligand of CFHR5 PMID: 25855355
7. At least two distinct intronic breakpoints within the CFHR5 gene can cause the same mutant CFHR5 protein and C3 glomerulopathy. PMID: 24067434
8. A hybrid CFHR2-CFHR5 plasma protein, arising from a chromosomal deletion mutation stabilizes the C3 convertase and reduces factor H-mediated convertase decay. PMID: 24334459
9. Recent investigations in London and Cyprus culminated in the identification of another autosomal dominant condition that presents with microscopic haematuria because of heterozygous mutations in the CFHR5 gene--{review} PMID: 23402027
10. A potentially pathogenic sequence variation was found in CFHR5 in the patients with atypical hemolytic uremic syndrome. PMID: 22622361
11. CFHR5 nephropathy is discussed. PMID: 22065842
12. Describe the clinical course, significant variable expressivity, and marked gender difference regarding the development of chronic renal failure in familial C3 glomerulopathy associated with CFHR5 mutations. PMID: 21566112
13. evidence for an inherited renal disease, endemic in Cyprus, characterised by microscopic and synpharyngitic macroscopic haematuria, renal failure and C3 glomerulonephritis; affected individuals have an internal duplication within the gene for CFHR5 PMID: 20800271
14. Study identified novel mutations in CFH, CFHR5, CFI, CFB and C3 in American patients with atypical hemolytic uremic syndrome. PMID: 20513133
15. Maps to between FHR-2 and the non-complement protein factor XIIIb at 1q32. PMID: 12041828
16. FHR-5 shares properties of binding heparin and C-reactive protein and lipoprotein association with one or more of the other FHRs, but is unique among this family of proteins in possessing independent complement-regulatory activity. PMID: 15879123
17. Identification of specific variants of variants of CFHR5 in membranoproliferative glomerulonephritis type II. PMID: 16299065
18. CFHR5 genetic alterations may play a secondary role in the pathogenesis of haemolytic uraemic syndrome. PMID: 17000000
19. No definitive pathogenic CFHR5 mutations have been found in any of 639 unrelated patients with age-related macular degeneration (AMD), indicating that sequence variations in CFHR5 do not play a major role in determining AMD susceptibility. PMID: 19365580

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HGNC: 24668

OMIM: 608593

KEGG: hsa:81494

STRING: 9606.ENSP00000256785

UniGene: Hs.282594