ERCC excision repair 8, CSA ubiquitin ligase complex subunit
Última actualización 10 de abril de 2023
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El ERCC8 gene provides instructions for making a protein called Cockayne syndrome A (CSA), which is involved in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals. The damage caused by these agents can block vital cell activities such as gene transcription, which is the first step in protein production. If left uncorrected, DNA damage accumulates, which causes cells to malfunction and can lead to cell death.
Normal function
El ERCC8 gene provides instructions for making a protein called Cockayne syndrome A (CSA), which is involved in repairing damaged DNA. DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals. The damage caused by these agents can block vital cell activities such as gene transcription, which is the first step in protein production. If left uncorrected, DNA damage accumulates, which causes cells to malfunction and can lead to cell death.
Although DNA damage occurs frequently, cells are usually able to fix it before it can cause problems. Cells have several mechanisms to correct DNA damage; one such mechanism involves the CSA protein. This protein specializes in repairing damaged DNA within active genes (those genes undergoing gene transcription). However, its specific role in this process is unclear. The CSA protein interacts with other proteins, probably to identify areas of damaged DNA.
Conditions referring to this gene or chromosome
Otros nombres
CKN1
Cockayne syndrome 1 (classical)
Cockayne syndrome 1 protein
Cockayne syndrome, type A
CSA
ERCC8_HUMAN
excision repair cross-complementation group 8
excision repair cross-complementing rodent repair deficiency, complementation group 8
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Lecturas adicionales y referencias
- ERCC excision repair 8, CSA ubiquitin ligase complex subunit; MedlinePlus, National Library of Medicine.
- Bertola DR, Cao H, Albano LMJ, Oliveira DP, Kok F, Marques-Dias MJ, Kim CA, Hegele RA. Cockayne syndrome type A: novel mutations in eight typical patients. J Hum Genet. 2006;51(8):701-705. doi: 10.1007/s10038-006-0011-7. Epub 2006 Jul 25.
- Cao H, Williams C, Carter M, Hegele RA. CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. J Hum Genet. 2004;49(1):61-63. doi: 10.1007/s10038-003-0107-2. Epub 2003 Dec 6.
- Kamiuchi S, Saijo M, Citterio E, de Jager M, Hoeijmakers JH, Tanaka K. Translocation of Cockayne syndrome group A protein to the nuclear matrix: possible relevance to transcription-coupled DNA repair. Proc Natl Acad Sci U S A. 2002 Jan 8;99(1):201-6. doi: 10.1073/pnas.012473199.
- Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J, Lyonnet S, Murday V, Gubser-Mercati D, Funalot B, Brueton L, Sanchez Del Pozo J, Munoz E, Gennery AR, Salih M, Noruzinia M, Prescott K, Ramos L, Stark Z, Fieggen K, Chabrol B, Sarda P, Edery P, Bloch-Zupan A, Fawcett H, Pham D, Egly JM, Lehmann AR, Sarasin A, Dollfus H. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Hum Mutat. 2010 Feb;31(2):113-26. doi: 10.1002/humu.21154.
- Laugel V. Cockayne syndrome: the expanding clinical and mutational spectrum. Mech Ageing Dev. 2013 May-Jun;134(5-6):161-70. doi: 10.1016/j.mad.2013.02.006. Epub 2013 Feb 18.
- Nardo T, Oneda R, Spivak G, Vaz B, Mortier L, Thomas P, Orioli D, Laugel V, Stary A, Hanawalt PC, Sarasin A, Stefanini M. A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6209-14. doi: 10.1073/pnas.0902113106. Epub 2009 Mar 27.
- Saijo M. The role of Cockayne syndrome group A (CSA) protein in transcription-coupled nucleotide excision repair. Mech Ageing Dev. 2013 May-Jun;134(5-6):196-201. doi: 10.1016/j.mad.2013.03.008. Epub 2013 Apr 6.
- Spivak G, Hanawalt PC. Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. DNA Repair (Amst). 2006 Jan 5;5(1):13-22. doi: 10.1016/j.dnarep.2005.06.017. Epub 2005 Aug 29.
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10 de abril de 2023 | Última versión
1 May 2016 | Publicado originalmente
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