encoded by the ERCC6 gene. The ERCC6 gene is located on the long arm of chromosome 10 at position 11.23. Having 1 or more copies of a mutated ERCC6 causes Cockayne...
25 KB (3,274 words) - 22:19, 28 January 2023
gene, and Cockayne syndrome type B (CSB), resulting from mutations in the ERCC6 gene. The underlying disorder is a defect in a DNA repair mechanism. Unlike...
30 KB (3,089 words) - 22:40, 1 January 2024
of two genes ERCC8(CSA) or ERCC6(CSB). ERCC8(CSA) mutations generally give rise to a more moderate form of CS than ERCC6(CSB) mutations. Mutations in...
33 KB (3,623 words) - 09:45, 28 July 2024
the ERCC6 gene, which encodes a protein that mediates DNA repair, transcription, and other cellular processes throughout the body. Mutations in ERCC6 are...
40 KB (4,786 words) - 14:15, 5 August 2024
autosomal 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...
43 KB (983 words) - 04:37, 11 August 2024
3p25 Xeroderma pigmentosum group C Type D, IV, XPD 29880 278730 278800 XPD ERCC6 19q13.2-q13.3, 10q11 Xeroderma pigmentosum group D or De Sanctis-Cacchione...
31 KB (3,001 words) - 07:13, 14 August 2024
Blazor, .NET Code execution on browser side via WebAssembly An alias for ERCC6, a gene involved in Cockayne syndrome Collection of Computer Science Bibliographies...
3 KB (394 words) - 13:45, 4 June 2024
CREBBP, CREB1, Cyclin H, CDK7, DNA-PKcs, E4F1, EFEMP2, EIF2AK2, ELL, EP300, ERCC6, GNL3, GPS2, GSK3B, HSP90AA1, HIF1A, HIPK1, HIPK2, HMGB1, HSPA9, Huntingtin...
124 KB (13,210 words) - 03:07, 12 August 2024
pre-mRNA which leads to an abnormal protein. CSB is caused by mutations in the ERCC6 gene, which encodes the CSB protein. CSA and CSB are involved in transcription-coupled...
74 KB (8,726 words) - 06:14, 3 June 2024
syndrome (BOFS), hemangiomatous branchial clefts-lip pseudocleft syndrome ERCC6 AR Cockayne syndrome type B (CSB), cerebro-oculo-facio-skeletal syndrome...
13 KB (538 words) - 09:46, 18 March 2024