ERCC excision repair 8, CSA ubiquitin ligase complex subunit
آخر تحديث 10 Apr 2023
يتوافق مع الإرشادات التحريرية
- تنزيلتنزيل
- مشاركة
- Language
- نقاش
- نسخة صوتية
- أضف إلى المصادر المفضلة على جوجل
ال 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
ال 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
Other names
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
Related patient information and medicines
Patient information leaflet
التهاب الغدد العرقية القيحي
التهاب الغدد العرقية القيحي is a long-term (chronic) skin condition that leads to painful and repeated lumps of pus (boils or abscesses). 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
أمراض صمامات القلب
Heart valves sit in between the chambers of the heart and control the blood flow through the heart. There are four common types of heart valve problem - mitral stenosis, mitral regurgitation , aortic stenosis and aortic regurgitation. The leaflet called Anatomy of the heart includes details about the function of the heart and how the heart beats..
Patient information leaflet
استبدال الركبة
Surgery to replace a worn-out knee joint is very common. Potential risks include, but are not limited to, bleeding, infection, blood clots, nerve or ligament dama... The National Institute for Health and Care Excellence (NICE) issued new guidance on knee replacements in 2022. If a specialist recommends knee replacement, they advise that: They.
Patient information leaflet
قلس الصمام التاجي
The mitral valve is a heart valve that lies between the left atrium and left ventricle. What is mitral regurgitation. Mitral regurgitation is sometimes called mitral insufficiency or mitral incompetence. In mitral regurgitation the valve does not close properly. This causes blood to leak back (regurgitate) into the left atrium when the left.
Patient information leaflet
قلس الأبهر
قلس الأبهر is sometimes called aortic incompetence or a leaky aortic valve. In aortic regurgitation the valve does not close properly. The aortic valve هو a heart valve that lies between the left ventricle and the aorta. Therefore, blood leaks back (regurgitates) into the left ventricle from the aorta. In some cases, aortic regurgitation.
Patient information leaflet
سرطان الجلد الميلانيني
العلاج الرئيسي للميلانوما هو جراحي، ولكن يتم استخدام علاجات أخرى بشكل متزايد، بما في ذلك العلاج الكيميائي والعلاج الإشعاعي، خاصة إذا لم يكن من الممكن إزالة جميع الميلانوما أو إذا تم تشخيص الميلانوما في مرحلة متأخرة نسبياً. سرطان الجلد الميلانيني هو the 5th most common cancer in the UK, accounting for about 4 in every 100.
قراءة إضافية ومراجع
- 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.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
10 Apr 2023 | أحدث إصدار
1 May 2016 | نُشر في الأصل
انضم إلى المحادثة
شارك أفكارك أو تجاربك مع الآخرين في مجتمعات المرضى.
اسأل، شارك، تواصل.
تصفح المناقشات، اطرح الأسئلة، وشارك التجارب عبر مئات المواضيع الصحية.
اشترك في النشرة الإخبارية للمرضى
جرعتك الأسبوعية من النصائح الصحية الواضحة والموثوقة - مكتوبة لمساعدتك على الشعور بالاطلاع والثقة والتحكم.
من خلال الاشتراك، فإنك تقبل سياسة الخصوصية. يمكنك إلغاء الاشتراك في أي وقت. نحن لا نبيع بياناتك أبدًا.