ERCC excision repair 6, chromatin remodeling factor
Dernière mise à jour 10 Apr 2023
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
La ERCC6 gene provides instructions for making a protein called Cockayne syndrome B (CSB). This protein is involved in repairing damaged DNA and appears to assist with gene transcription, which is the first step in protein production.
Normal function
La ERCC6 gene provides instructions for making a protein called Cockayne syndrome B (CSB). This protein is involved in repairing damaged DNA and appears to assist with gene transcription, which is the first step in protein production.
DNA can be damaged by ultraviolet (UV) rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals. 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 CSB protein. This protein specializes in repairing damaged DNA within active genes (those genes undergoing gene transcription). When DNA in active genes is damaged, the enzyme that carries out gene transcription (RNA polymerase) gets stuck, and the process stalls. Researchers think that the CSB protein helps remove RNA polymerase from the damaged site, so the DNA can be repaired. The CSB protein may also assist in restarting gene transcription after the damage is corrected.
Conditions referring to this gene or chromosome
Other names
ARMD5
CKN2
COFS
CSB
ERCC6_HUMAN
excision repair cross-complementation group 6
RAD26
Rad26 (yeast) homolog
Related patient information and medicines
Patient information leaflet
Leucémie lymphoblastique aiguë
Il y a various subtypes of ALL. For example, the abnormal lymphoblasts can be immature B or T lymphocytes. The abnormal lymphoblasts continue to divide and multiply but do not mature into proper lymphocytes. Typically, ALL develops quite quickly (acutely) and rapidly becomes worse (over a few weeks or so) unless treated. Who develops acute.
Patient information leaflet
Hidradénite suppurée
Suppuration means formation or discharge of pus. These areas (commonly the armpits and groin) leak pus and are difficult to heal. Eventually, scarring occurs. Treatments include antibiotic lotions or medicines, or an operation to remove the affected skin area. A newer treatment works by blocking a chemical of the immune system that causes.
Patient information leaflet
Hémophilie
Hémophilie is a rare bleeding disorder that affects your ability to make a clot. The blood contains substances called clotting factors that work with platelets to form a clot. When you injure yourself the clot stops you bleeding. Haemophilia is a condition where there is a deficiency of clotting factors, so people with this condition usually have.
Patient information leaflet
Cancer du sein
Si breast cancer is diagnosed à an early stage, less treatment may be needed and it is plus likely to be effective. In general, the more advanced the cancer (the more it has grown and spread), the less chance that treatment will be curative. However, treatments are improving all the time and they can often slow the progress of the cancer. Breast.
Patient information leaflet
Tests de coagulation sanguine
Tests de coagulation sanguine are used to diagnose et assess bleeding problems and to monitor people who take warfarin or other anticoagulant medicines. You may be advised to have blood clotting tests: If you have a suspected bleeding disorder. For example, if you bleed a lot after cuts, or if you bruise easily. If you have certain liver diseases that can.
Patient information leaflet
Cancer de la peau mélanome
The treatment for melanoma is mainly surgical but other treatments, including chemotherapy and radiotherapy, are increasingly used, especially if it is not possible to remove all the melanoma or if the melanoma is diagnosed at a relatively late stage. Cancer de la peau mélanome is the 5th most common cancer in the UK, accounting for about 4 in every 100.
Lectures complémentaires et références
- ERCC excision repair 6, chromatin remodeling factor; MedlinePlus, National Library of Medicine.
- Horibata K, Iwamoto Y, Kuraoka I, Jaspers NG, Kurimasa A, Oshimura M, Ichihashi M, Tanaka K. Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc Natl Acad Sci U S A. 2004 Oct 26;101(43):15410-5. doi: 10.1073/pnas.0404587101. Epub 2004 Oct 14.
- 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. 2000 Dec 28 [updated 2024 Aug 29]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1342/
- 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.
- Licht CL, Stevnsner T, Bohr VA. Cockayne syndrome group B cellular and biochemical functions. Am J Hum Genet. 2003 Dec;73(6):1217-39. doi: 10.1086/380399. Epub 2003 Nov 24.
- Newman JC, Bailey AD, Weiner AM. Cockayne syndrome group B protein (CSB) plays a general role in chromatin maintenance and remodeling. Proc Natl Acad Sci U S A. 2006 Jun 20;103(25):9613-8. doi: 10.1073/pnas.0510909103. Epub 2006 Jun 13.
- 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.
- Velez-Cruz R, Egly JM. Cockayne syndrome group B (CSB) protein: at the crossroads of transcriptional networks. Mech Ageing Dev. 2013 May-Jun;134(5-6):234-42. doi: 10.1016/j.mad.2013.03.004. Epub 2013 Apr 3.
- Wilson BT, Lochan A, Stark Z, Sutton RE. Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome. Am J Med Genet A. 2016 Mar;170(3):773-6. doi: 10.1002/ajmg.a.37501. Epub 2016 Jan 8.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.