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...

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...

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...

the ERCC6 gene, which encodes a protein that mediates DNA repair, transcription, and other cellular processes throughout the body. Mutations in ERCC6 are...

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...

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...

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...

CREBBP, CREB1, Cyclin H, CDK7, DNA-PKcs, E4F1, EFEMP2, EIF2AK2, ELL, EP300, ERCC6, GNL3, GPS2, GSK3B, HSP90AA1, HIF1A, HIPK1, HIPK2, HMGB1, HSPA9, Huntingtin...

aging, extensive neurodegeneration, and a short lifespan of 4–5 months ERCC6 (Cockayne syndrome B or CS-B) Nucleotide excision repair [especially transcription...

syndrome (BOFS), hemangiomatous branchial clefts-lip pseudocleft syndrome ERCC6 AR Cockayne syndrome type B (CSB), cerebro-oculo-facio-skeletal syndrome...

aging, extensive neurodegeneration, and a short lifespan of 4–5 months ERCC6 (Cockayne syndrome B or CS-B) Nucleotide excision repair [especially transcription...

Blazor, .NET Code execution on browser side via WebAssembly An alias for ERCC6, a gene involved in Cockayne syndrome Collection of Computer Science Bibliographies...

translation initiation factor 5A-like 1 EPC1: Enhancer of polycomb homolog 1 ERCC6: excision repair cross-complementing rodent repair deficiency, complementation...

arises from germline mutations in either of two genes CSA(ERCC8) or CSB(ERCC6). CSA mutations generally give rise to a more moderate form of CS than CSB...

transcribed from the following genes: ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, and ERCC8. Members 1 though 5 are associated with Xeroderma Pigmentosum...

a stable complex with TFIIH, which is active in transcription and NER. ERCC6 encodes a DNA-binding protein that is important in transcription-coupled...

HGNC:3435 P19447 5053 ERCC4 HGNC:3436 Q92889 5054 ERCC5 HGNC:3437 P28715 5055 ERCC6 HGNC:3438 P0DP91 Q03468 5056 ERCC6L HGNC:20794 Q2NKX8 5057 ERCC6L2 HGNC:26922...

gene lesion involves a mutation in the CSB gene. It can be associated with ERCC6. Xeroderma pigmentosum List of cutaneous conditions RESERVED, INSERM US14--...

CP, Sancar A (Jan 1997). "Human transcription-repair coupling factor CSB/ERCC6 is a DNA-stimulated ATPase but is not a helicase and does not disrupt the...

syndrome; 611209; COG1 Cerebrooculofacioskeletal syndrome 1; 214150; ERCC6 Cerebrooculofacioskeletal syndrome 2; 610756; ERCC2 Cerebrooculofacioskeletal...

2012). "Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair". Nat. Genet. 44 (5): 593–7. doi:10...

Fitzpatrick, S.; Dzutsev, A. (2020). "Integrative genomic analysis implicates ERCC6 and its interaction with ERCC8 in susceptibility to breast cancer". Scientific...

dependent on RAD52. The Cockayne Syndrome B protein (CSB) (coded for by ERCC6) localizes at double-strand breaks at sites of active transcription, followed...

Elastin Cutis laxa ENG Endoglin Hereditary hemorrhagic telangiectasia type 1 ERCC6 (CSB) Cockayne syndrome ERCC8 (CSA) Cockayne syndrome EVER1 (TMC6) Epidermodysplasia...

C, et al. (January 1998). "Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome". American Journal of Human Genetics...