ERCC2
ERCC2 (pronounced as E-R-C-C-2), also known as Excision Repair Cross-Complementation Group 2, is a gene that provides instructions for making a protein involved in DNA repair and transcription.
Pronunciation
The term ERCC2 is pronounced as "E-R-C-C-Two".
Etymology
The term ERCC2 is an acronym derived from "Excision Repair Cross-Complementation Group 2". The term "Excision Repair" refers to the mechanism that the cell uses to repair the damage in the DNA. "Cross-Complementation Group 2" refers to the group of genes that work together to perform this function.
Function
The protein produced by the ERCC2 gene is involved in nucleotide excision repair of damaged DNA. This protein is also part of the TFIIH transcription factor complex, which regulates the transcription of genes.
Related Terms
Clinical Significance
Mutations in the ERCC2 gene have been associated with several disorders, including Xeroderma pigmentosum, Cockayne syndrome, and Trichothiodystrophy. These conditions are characterized by sensitivity to sunlight and a predisposition to skin cancer.
See Also
External links
- Medical encyclopedia article on ERCC2
- Wikipedia's article - ERCC2
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