excision repair protein ERCC-8 is a protein that in humans is encoded by the ERCC8 gene. This gene encodes a WD repeat protein, which interacts with the Cockayne...
10 KB (1,235 words) - 14:26, 25 October 2024
(CS) arises from germline mutations in either of two genes ERCC8(CSA) or ERCC6(CSB). ERCC8(CSA) mutations generally give rise to a more moderate form...
33 KB (3,623 words) - 18:02, 20 August 2024
syndrome: Cockayne syndrome type A (CSA), arising from mutations in the ERCC8 gene, and Cockayne syndrome type B (CSB), resulting from mutations in the...
30 KB (3,089 words) - 08:42, 2 November 2024
stress questionnaire Clinical Skills Assessment exam Cockayne syndrome A or ERCC8, a gene whose mutation causes Cockayne syndrome Cognitive styles analysis...
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recessive Cleidocranial dysostosis RUNX2 1:7,800 Cockayne syndrome ERCC6, ERCC8 1:2,600-3,900 Coffin–Lowry syndrome X RPS6KA3 1:40,000-50,000 Cohen syndrome...
43 KB (995 words) - 08:29, 11 November 2024
specific gene. CSA is caused by mutations in the cross-complementing gene 8 (ERCC8), which encodes for the CSA protein. These mutations are thought to cause...
74 KB (8,748 words) - 15:14, 24 November 2024
Q03468 5056 ERCC6L HGNC:20794 Q2NKX8 5057 ERCC6L2 HGNC:26922 Q5T890 5058 ERCC8 HGNC:3439 Q13216 5059 EREG HGNC:3443 O14944 5060 ERF HGNC:3444 P50548 5061...
277 KB (17 words) - 18:41, 6 October 2024
Hereditary hemorrhagic telangiectasia type 1 ERCC6 (CSB) Cockayne syndrome ERCC8 (CSA) Cockayne syndrome EVER1 (TMC6) Epidermodysplasia verruciformis EVER2...
12 KB (108 words) - 02:46, 17 September 2022
DNA damages including 8-oxoguanine, 5-hydroxycytosine and cyclopurines ERCC8 (Cockayne syndrome A or CS-A) Nucleotide excision repair [especially transcription...
97 KB (11,101 words) - 11:45, 3 September 2024
DYNC1I2, EDC4, EED, EIF3S2, ELP2, EML1, EML2, EML3, EML4, EML4-ALK, EML5, ERCC8, FBXW10, FBXW11, FBXW2, FBXW4, FBXW5, FBXW7, FBXW8, FBXW9, FZR1, GBL, GEMIN5...
13 KB (958 words) - 04:46, 26 August 2024
encoding protein Eukaryotic translation initiation factor 4E family member 1B ERCC8: excision repair cross-complementing rodent repair deficiency, complementation...
32 KB (2,298 words) - 22:55, 28 March 2024
from the following genes: ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, and ERCC8. Members 1 though 5 are associated with Xeroderma Pigmentosum. Members 6...
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DNA damages including 8-oxoguanine, 5-hydroxycytosine and cyclopurines ERCC8 (Cockayne syndrome A or CS-A) Nucleotide excision repair [especially transcription...
43 KB (3,768 words) - 09:59, 20 November 2024
"Integrative genomic analysis implicates ERCC6 and its interaction with ERCC8 in susceptibility to breast cancer". Scientific Reports. 10 (1): 21276....
17 KB (1,640 words) - 15:12, 24 November 2024
DNA-binding protein that is important in transcription-coupled excision repair. ERCC8 interacts with Cockayne syndrome type B (CSB) protein, with p44 (GTF2H2)...
37 KB (4,622 words) - 17:05, 6 April 2024
matter). CS arises from germ line mutations in either of two genes, CSA(ERCC8) or CSB(ERCC6). About two thirds of CS patients have a mutation in the CSB(ERCC6)...
25 KB (3,274 words) - 22:19, 28 January 2023
protein encoded by UQCRQ has protein-protein interactions with UQCRC1, OPTN, ERCC8, GRINL1A, Dctn1, K8.1, XRCC3, PML, RAB7A, HNRNPA1L2, CDC73, NLRP3, HAUS2...
6 KB (811 words) - 00:39, 2 September 2023
RPGRIP1L COACH syndrome; 216360; TMEM67 Cockayne syndrome type A; 216400; ERCC8 Cockayne syndrome type B; 133540; ERCC6 Cocoon syndrome; 613630; CHUK Coenzyme...
234 KB (18,877 words) - 06:16, 6 November 2024
humans is encoded by the XAB2 gene. XAB2 has been shown to interact with ERCC8 and XPA. GRCh38: Ensembl release 89: ENSG00000076924 – Ensembl, May 2017...
3 KB (352 words) - 10:44, 5 January 2024