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 syndrome...
10 KB (1,234 words) - 05:02, 6 July 2024
arising from mutations in the ERCC8 gene, and Cockayne syndrome type B (CSB), resulting from mutations in the ERCC6 gene. The underlying disorder is a...
30 KB (3,089 words) - 22:40, 1 January 2024
syndrome (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
questionnaire Clinical Skills Assessment exam Cockayne syndrome A or ERCC8, a gene whose mutation causes Cockayne syndrome Cognitive styles analysis, a...
6 KB (692 words) - 18:04, 4 June 2024
Chromosome 5 (category Genes on human chromosome 5)
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
insertion/deletion entirely inside one gene D – Deletion of a gene or genes Dup - Duplication of a gene or genes C – Whole chromosome extra, missing, or...
42 KB (983 words) - 10:34, 21 August 2024
ERCC6 (redirect from ERCC6 (gene))
mutations in either of two genes, CSA(ERCC8) or CSB(ERCC6). About two thirds of CS patients have a mutation in the CSB(ERCC6) gene. Mutations in ERCC6 that...
25 KB (3,274 words) - 22:19, 28 January 2023
RNA polymerase II holoenzyme (category Gene expression)
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
"Statistics & download files". www.genenames.org. HUGO Gene Nomenclature Committee. 12 April 2024. Retrieved 12 April 2024....
277 KB (17 words) - 15:46, 9 May 2024
A number of gene mutations have been linked to conditions of or affecting the human integumentary system. List of radiographic findings associated with...
12 KB (108 words) - 02:46, 17 September 2022