complement factor H
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L CFH gene provides instructions for making a protein called complement factor H. This protein helps regulate 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 an inflammatory response, 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, together with several related proteins, protects healthy cells by preventing the complement system from being turned on (activated) when it is not needed.
Normal function
L CFH gene provides instructions for making a protein called complement factor H. This protein helps regulate 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 an inflammatory response, 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, together with several related proteins, protects healthy cells by preventing the complement system from being turned on (activated) when it is not needed.
Conditions referring to this gene or chromosome
Altri nomi
age-related maculopathy susceptibility 1
AHUS1
ARMD4
ARMS1
beta-1-H-globulin
beta-1H
C3b inactivator accelerator
CFAH_HUMAN
CFHL3
factor H
factor H-like 1
FH
FHL1
H factor 1 (complement)
H factor 2 (complement)
HF
HF1
HF2
HUS
MGC88246
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Ulteriori letture e riferimenti
- complement factor H; 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.
- Atkinson JP, Goodship TH. Complement factor H and the hemolytic uremic syndrome. J Exp Med. 2007 Jun 11;204(6):1245-8. doi: 10.1084/jem.20070664. Epub 2007 Jun 4.
- Boon CJ, Klevering BJ, Hoyng CB, Zonneveld-Vrieling MN, Nabuurs SB, Blokland E, Cremers FP, den Hollander AI. Basal laminar drusen caused by compound heterozygous variants in the CFH gene. Am J Hum Genet. 2008 Feb;82(2):516-23. doi: 10.1016/j.ajhg.2007.11.007.
- Boon CJ, van de Kar NC, Klevering BJ, Keunen JE, Cremers FP, Klaver CC, Hoyng CB, Daha MR, den Hollander AI. The spectrum of phenotypes caused by variants in the CFH gene. Mol Immunol. 2009 May;46(8-9):1573-94. doi: 10.1016/j.molimm.2009.02.013. Epub 2009 Mar 17.
- Despriet DD, Klaver CC, Witteman JC, Bergen AA, Kardys I, de Maat MP, Boekhoorn SS, Vingerling JR, Hofman A, Oostra BA, Uitterlinden AG, Stijnen T, van Duijn CM, de Jong PT. Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA. 2006 Jul 19;296(3):301-9. doi: 10.1001/jama.296.3.301.
- Donoso LA, Vrabec T, Kuivaniemi H. The role of complement Factor H in age-related macular degeneration: a review. Surv Ophthalmol. 2010 May-Jun;55(3):227-46. doi: 10.1016/j.survophthal.2009.11.001.
- Francis PJ, Schultz DW, Hamon S, Ott J, Weleber RG, Klein ML. Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration. PLoS One. 2007 Nov 28;2(11):e1197. doi: 10.1371/journal.pone.0001197.
- Li M, Atmaca-Sonmez P, Othman M, Branham KE, Khanna R, Wade MS, Li Y, Liang L, Zareparsi S, Swaroop A, Abecasis GR. CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet. 2006 Sep;38(9):1049-54. doi: 10.1038/ng1871. Epub 2006 Aug 27.
- Servais A, Noel LH, Roumenina LT, Le Quintrec M, Ngo S, Dragon-Durey MA, Macher MA, Zuber J, Karras A, Provot F, Moulin B, Grunfeld JP, Niaudet P, Lesavre P, Fremeaux-Bacchi V. Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies. Kidney Int. 2012 Aug;82(4):454-64. doi: 10.1038/ki.2012.63. Epub 2012 Mar 28.
- 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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