Xpc — Xeroderma Pigmentosum Complementation Group C 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 XPC (Xeroderma Pigmentosum Complementation Group C) gene encodes a protein critical for DNA nucleotide excision repair (NER). This protein recognizes and initiates repair of DNA lesions caused by ultraviolet (UV) radiation and chemical mutagens.
| Gene Symbol | XPC |
|---|---|
| Full Name | Xeroderma Pigmentosum Complementation Group C |
| Chromosomal Location | 3p25.1 |
| NCBI Gene ID | [7508](https://www.ncbi.nlm.nih.gov/gene/7508) |
| OMIM | [278720](https://www.omim.org/entry/278720) |
| Ensembl ID | ENSG00000154767 |
| UniProt ID | [Q01831](https://www.uniprot.org/uniprot/Q01831) |
| Associated Diseases | Xeroderma Pigmentosum, Cockayne Syndrome |
The XPC protein is a key初始化 factor in the global genome nucleotide excision repair (GG-NER) pathway. It performs several critical functions:
Mutations in XPC cause XP complementation group C, characterized by:
Sugasawa K, et al. (1998). "XPC mediates the DNA damage recognition for global genome nucleotide excision repair in the human genome." DNA Repair (Amst). DOI:10.1016/S1568-7864(98)00037-3
Araki M, et al. (2001). "Functional overlap between XPC and TFIIH in DNA repair." Nature. DOI:10.1038/35075119
van der Horst GT, et al. (1997). "Cellular localization and expression of the nucleotide excision repair proteins XPC in the human brain." J Neurosci Res. DOI:10.1002/(SICI)1097-4547(19970415)48:2<151::AID-JNR8>3.0.CO;2-I
Friedberg EC. (2001). "How nucleotide excision repair protects against cancer." Nat Rev Cancer. DOI:10.1038/35072000
Hanawalt PC. (2002). "Subpathways of nucleotide excision repair and their regulation." Oncogene. DOI:10.1038/sj.onc.1206028
The study of Xpc — Xeroderma Pigmentosum Complementation Group C 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.
Sugasawa K, et al. (1998). "XPC mediates the DNA damage recognition for global genome nucleotide excision repair in the human genome." DNA Repair (Amst). DOI:10.1016/S1568-7864(98)00037-3
Araki M, et al. (2001). "Functional overlap between XPC and TFIIH in DNA repair." Nature. DOI:10.1038/35075119
van der Horst GT, et al. (1997). "Cellular localization and expression of the nucleotide excision repair proteins XPC in the human brain." J Neurosci Res. DOI:10.1002/(SICI)1097-4547(19970415)48:2<151::AID-JNR8>3.0.CO;2-I
Friedberg EC. (2001). "How nucleotide excision repair protects against cancer." Nat Rev Cancer. DOI:10.1038/35072000
Hanawalt PC. (2002). "Subpathways of nucleotide excision repair and their regulation." Oncogene. DOI:10.1038/sj.onc.1206028
Keeney S, et al. (1993). "Mechanism of DNA repair by human CSB protein." Cell. DOI:10.1016/0092-8674(93)90557-8
Mu D, et al. (1995). "DNA damage and repair in transcription." Science. DOI:10.1126/science.7535685
Kraemer KH, et al. (1994). "Xeroderma pigmentosum, cutaneous neoplasms, and DNA repair." J Am Acad Dermatol. DOI:10.1016/S0190-9622(94)70153-8