Ercc1 — Excision Repair Cross Complementation Group 1 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 ERCC1 (Excision Repair Cross-Complementation Group 1) gene encodes a protein essential for DNA repair, particularly in the nucleotide excision repair (NER) pathway. It plays a critical role in maintaining genomic stability by repairing DNA lesions caused by environmental insults.
| Gene Symbol | ERCC1 |
|---|---|
| Full Name | Excision Repair Cross-Complementation Group 1 |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | [2075](https://www.ncbi.nlm.nih.gov/gene/2075) |
| OMIM | [126380](https://www.omim.org/entry/126380) |
| Ensembl ID | ENSG00000112020 |
| UniProt ID | [P49755](https://www.uniprot.org/uniprot/P49755) |
| Associated Diseases | Cockayne Syndrome, Xeroderma Pigmentosum, Fanconi Anemia |
ERCC1 functions as part of a heterodimer with XPF (ERCC4) to perform the critical incision step in nucleotide excision repair:
de Laat WL, et al. (1999). "DNA-binding polarity of human replication protein A." Nucleic Acids Res. DOI:10.1093/nar/27.8.1834
Wood RD. (2010). "Nucleotide excision repair in mammalian cells." J Biol Chem. DOI:10.1074/jbc.R109.072876
Niedernhofer LJ, et al. (2004). "The molecular biology of aging: nucleotide excision repair as a guardian of the genome." Ann N Y Acad Sci. DOI:10.1196/annals.1293.026
McKay BC, et al. (2000). "Nucleotide excision repair and human disease." Crit Rev Eukaryot Gene Expr. DOI:10.1615/CritRevEukaryotGeneExpr.v10.i4.30
Hanawalt PC. (2002). "Subpathways of nucleotide excision repair and their regulation." Oncogene. DOI:10.1038/sj.onc.1206028
The study of Ercc1 — Excision Repair Cross Complementation Group 1 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.
de Laat WL, et al. (1999). "DNA-binding polarity of human replication protein A." Nucleic Acids Res. DOI:10.1093/nar/27.8.1834
Wood RD. (2010). "Nucleotide excision repair in mammalian cells." J Biol Chem. DOI:10.1074/jbc.R109.072876
Niedernhofer LJ, et al. (2004). "The molecular biology of aging: nucleotide excision repair as a guardian of the genome." Ann N Y Acad Sci. DOI:10.1196/annals.1293.026
McKay BC, et al. (2000). "Nucleotide excision repair and human disease." Crit Rev Eukaryot Gene Expr. DOI:10.1615/CritRevEukaryotGeneExpr.v10.i4.30
Hanawalt PC. (2002). "Subpathways of nucleotide excision repair and their regulation." Oncogene. DOI:10.1038/sj.onc.1206028
Sancar A. (1996). "DNA excision repair." Annu Rev Biochem. DOI:10.1146/annurev.bi.65.070196.003205
Clarkson SG. (2003). "The XPG story." Biochimie. DOI:10.1016/S0300-9084(03)00049-4
Friedberg EC, et al. (1995). "DNA repair: a laboratory manual." Cold Spring Harbor Laboratory Press.