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
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
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 (3,620 words) - 16:53, 6 April 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
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
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 (969 words) - 16:02, 3 April 2024
XAB2 (redirect from XAB2 (gene))
is a protein that in humans is encoded by the XAB2 gene. XAB2 has been shown to interact with ERCC8 and XPA. GRCh38: Ensembl release 89: ENSG00000076924...
3 KB (352 words) - 10:44, 5 January 2024
ERCC proteins are transcribed from the following genes: ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, and ERCC8. Members 1 though 5 are associated with Xeroderma...
953 bytes (87 words) - 05:03, 25 December 2020
"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