CFHR5 explained

Complement factor H-related protein 5 is a protein that in humans is encoded by the CFHR5 gene.^{[1] [2] [3]}

Function

CFHR5 is structurally related to complement factor H which plays an important role in the regulation of a branch of the innate immune system called the alternative complement pathway. Like complement factor H, CFHR5 is able to bind to complement C3.^[4]

Clinical significance

A mutation in CHFR5 was found in patients with the disease CFHR5 nephropathy, which is a common cause of renal disease in Cyprus. The mutated form of the protein found in patients with this disease has impaired ability to bind to complement C3, suggesting that CFHR5 is important in protecting the kidneys from attack by the complement system.^[5]

External links

• GeneReviews/NCBI/NIH/UW entry on Dense Deposit Disease/Membranoproliferative Glomerulonephritis Type II

Further reading

• Närkiö-Mäkelä M, Hellwage J, Tahkokallio O, Meri S . Complement-regulator factor H and related proteins in otitis media with effusion. . Clin. Immunol. . 100 . 1 . 118–26 . 2001 . 11414752 . 10.1006/clim.2001.5043 .
• Murphy B, Georgiou T, Machet D . Factor H-related protein-5: a novel component of human glomerular immune deposits. . Am. J. Kidney Dis. . 39 . 1 . 24–7 . 2002 . 11774097 . 10.1053/ajkd.2002.29873 . etal.
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• McRae JL, Duthy TG, Griggs KM . Human factor H-related protein 5 has cofactor activity, inhibits C3 convertase activity, binds heparin and C-reactive protein, and associates with lipoprotein. . J. Immunol. . 174 . 10 . 6250–6 . 2005 . 15879123 . 10.4049/jimmunol.174.10.6250. etal. free .
• Abrera-Abeleda MA, Nishimura C, Smith JL . Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease). . J. Med. Genet. . 43 . 7 . 582–9 . 2006 . 16299065 . 10.1136/jmg.2005.038315 . 2564553 . etal.
• Kimura K, Wakamatsu A, Suzuki Y . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 . etal.
• Monteferrante G, Brioschi S, Caprioli J . Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome. . Mol. Immunol. . 44 . 7 . 1704–8 . 2007 . 17000000 . 10.1016/j.molimm.2006.08.004 . etal.

Notes and References

1. McRae JL, Cowan PJ, Power DA, Mitchelhill KI, Kemp BE, Morgan BP, Murphy BF . Human factor H-related protein 5 (FHR-5). A new complement-associated protein . J Biol Chem . 276 . 9 . 6747–54 . Mar 2001 . 11058592 . 10.1074/jbc.M007495200 . free .
2. McRae JL, Murphy BE, Eyre HJ, Sutherland GR, Crawford J, Cowan PJ . Grant Robert Sutherland . Location and structure of the human FHR-5 gene . Genetica . 114 . 2 . 157–61 . Jun 2002 . 12041828 . 10.1023/A:1015114512924 . 19274329 .
3. Web site: Entrez Gene: CFHR5 complement factor H-related 5.
4. McRae JL, Duthy TG, Griggs KM . Human factor H-related protein 5 has cofactor activity, inhibits C3 convertase activity, binds heparin and C-reactive protein, and associates with lipoprotein. . J. Immunol. . 174 . 10 . 6250–6 . 2005 . 15879123 . 10.4049/jimmunol.174.10.6250. etal. free .
5. Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, Hadjisavvas A, McLean AG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C, Palmer A, Frémeaux-Bacchi V, de Cordoba SR, Maxwell PH, Pickering MC . Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis . Lancet . 376 . 9743 . 794–801 . September 2010 . 20800271 . 2935536 . 10.1016/S0140-6736(10)60670-8 .