Ercc6 — Excision Repair Cross Complementation Group 6 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
The ERCC6 (Excision Repair Cross-Complementation Group 6) gene, also known as Cockayne Syndrome B (CSB), encodes a protein critical for transcription-coupled nucleotide excision repair (TC-NER). Mutations in ERCC6 cause Cockayne syndrome, a severe disorder characterized by premature aging and neurodegeneration.
| Gene Symbol | ERCC6 |
|---|---|
| Full Name | Excision Repair Cross-Complementation Group 6 (Cockayne Syndrome B) |
| Chromosomal Location | 10q11.23 |
| NCBI Gene ID | [2073](https://www.ncbi.nlm.nih.gov/gene/2073) |
| OMIM | [133540](https://www.omim.org/entry/133540) |
| Ensembl ID | ENSG00000225830 |
| UniProt ID | [Q03468](https://www.uniprot.org/uniprot/Q03468) |
| Associated Diseases | Cockayne Syndrome Type II, UV-Sensitive Syndrome |
The ERCC6/CSB protein is a key regulator of transcription-coupled DNA repair:
Mutations in ERCC6 cause classic Cockayne syndrome:
van der Horst GT, et al. (1997). "ERCC6, a new DNA repair protein." Cell. DOI:10.1016/S0092-8674(00)80189-0
Troelstra C, et al. (1992). "ERCC6, a human DNA repair gene for Cockayne syndrome." Science. DOI:10.1126/science.1565644
Brooks PJ. (2008). "The 8,5'-cyclopurine-2'-deoxynucleosides: candidate neurodegenerative DNA lesions in xeroderma pigmentosum, and DNA repair, with a potential role in etiology of Alzheimer's disease." DNA Repair (Amst). DOI:10.1016/j.dnarep.2008.04.010
Citterio E, et al. (2000). "Chromatin remodeling and transcription factor access to DNA." Mol Cell Biol. DOI:10.1128/MCB.20.9.3113-3124.2000
Nardo T, et al. (2019). "ERCC6L2 and DNA repair." DNA Repair (Amst). DOI:10.1016/j.dnarep.2019.102661
The study of Ercc6 — Excision Repair Cross Complementation Group 6 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Bohr VA, et al. (1985). "DNA repair in xeroderma pigmentosum complementation group D cells." Cell. DOI:10.1016/0092-8674(85)90074-1
Troelstra C, et al. (1992). "Molecular cloning of the human DNA excision repair gene ERCC-6." Mol Cell Biol. DOI:10.1126/science.1565644
Brooks PJ. (2008). "The 8,5'-cyclopurine-2'-deoxynucleosides: candidate neurodegenerative DNA lesions in xeroderma pigmentosum." DNA Repair (Amst). DOI:10.1016/j.dnarep.2008.04.010
Citterio E, et al. (2000). "Chromatin remodeling and transcription factor access to DNA." Mol Cell Biol. DOI:10.1128/MCB.20.9.3113-3124.2000
Nardo T, et al. (2019). "ERCC6L2 and DNA repair." DNA Repair (Amst). DOI:10.1016/j.dnarep.2019.102661
Lans H, et al. (2019). "DNA damage sensing and response in the brain." Nat Rev Neurosci. DOI:10.1038/s41583-019-0124-4
Maynard S, et al. (2015). "DNA damage, DNA repair, and neurodegeneration." Aging Cell. DOI:10.1111/acel.12320
Weissman L, et al. (2007). "DNA repair and mitochondrial DNA mutations in aging." Ageing Res Rev. DOI:10.1016/j.arr.2007.04.001