complement factor H related 5
Última actualización 18 Aug 2020
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El CFHR5 gene provides instructions for making a protein called complement factor H-related 5. The precise function of this protein is unknown. However, its structure is similar to that of a protein called complement factor H (which is produced from the CFH gene). This similarity provides clues to the probable function of complement factor H-related 5.
Normal function
El CFHR5 gene provides instructions for making a protein called complement factor H-related 5. The precise function of this protein is unknown. However, its structure is similar to that of a protein called complement factor H (which is produced from the CFH gene). This similarity provides clues to the probable function of complement factor H-related 5.
Complement factor H regulates a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. This system must be carefully regulated so it targets only unwanted materials and does not damage the body's healthy cells. Complement factor H helps to protect healthy cells by preventing the complement system from being turned on (activated) when it is not needed. Studies suggest that complement factor H-related 5 also plays a role in controlling the complement system.
Conditions referring to this gene or chromosome
Otros nombres
CFHL5
complement factor H-related 5
complement factor H-related protein 5
factor H-related protein 5
FHR-5
FHR5
FHR5_HUMAN
FLJ10549
MGC133240
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Lecturas adicionales y referencias
- complement factor H related 5; MedlinePlus, National Library of Medicine.
- Abrera-Abeleda MA, Nishimura C, Smith JL, Sethi S, McRae JL, Murphy BF, Silvestri G, Skerka C, Jozsi M, Zipfel PF, Hageman GS, Smith RJ. 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. 2006 Jul;43(7):582-9. doi: 10.1136/jmg.2005.038315. Epub 2005 Nov 18.
- Athanasiou Y, Voskarides K, Gale DP, Damianou L, Patsias C, Zavros M, Maxwell PH, Cook HT, Demosthenous P, Hadjisavvas A, Kyriacou K, Zouvani I, Pierides A, Deltas C. Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees. Clin J Am Soc Nephrol. 2011 Jun;6(6):1436-46. doi: 10.2215/CJN.09541010. Epub 2011 May 12.
- Deltas C, Gale D, Cook T, Voskarides K, Athanasiou Y, Pierides A. C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families. Adv Exp Med Biol. 2013;735:189-96. doi: 10.1007/978-1-4614-4118-2_12.
- 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, Fremeaux-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. 2010 Sep 4;376(9743):794-801. doi: 10.1016/S0140-6736(10)60670-8. Epub 2010 Aug 25.
- Gale DP, Maxwell PH. C3 glomerulonephritis and CFHR5 nephropathy. Nephrol Dial Transplant. 2013 Feb;28(2):282-8. doi: 10.1093/ndt/gfs441. Epub 2012 Nov 2.
- Gale DP, Pickering MC. Regulating complement in the kidney: insights from CFHR5 nephropathy. Dis Model Mech. 2011 Nov;4(6):721-6. doi: 10.1242/dmm.008052.
- Xiao X, Pickering MC, Smith RJ. C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis. Semin Thromb Hemost. 2014 Jun;40(4):465-71. doi: 10.1055/s-0034-1376334. Epub 2014 May 5.
- Zipfel PF, Skerka C, Chen Q, Wiech T, Goodship T, Johnson S, Fremeaux-Bacchi V, Nester C, de Cordoba SR, Noris M, Pickering M, Smith R. The role of complement in C3 glomerulopathy. Mol Immunol. 2015 Sep;67(1):21-30. doi: 10.1016/j.molimm.2015.03.012. Epub 2015 Apr 28.
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