ERCC6
ERCC6
ERCC6 (pronounced as E-R-C-C-Six), also known as Excision Repair Cross-Complementation Group 6, is a protein that in humans is encoded by the ERCC6 gene.
Etymology
The term ERCC6 is an abbreviation derived from "Excision Repair Cross-Complementation Group 6". The name reflects the gene's role in the DNA repair process.
Function
The ERCC6 protein is involved in transcription-coupled nucleotide excision repair. This process is a sub-pathway of nucleotide excision repair, which repairs DNA damage throughout the genome. The ERCC6 protein is believed to be a DNA helicase that unwinds the DNA duplex during this process.
Clinical Significance
Mutations in the ERCC6 gene are associated with Cockayne syndrome type B and Cerebro-oculo-facio-skeletal syndrome. Both are rare disorders characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.
Related Terms
- DNA repair
- Gene
- Protein
- Transcription (genetics)
- Nucleotide excision repair
- DNA helicase
- Cockayne syndrome
- Cerebro-oculo-facio-skeletal syndrome
External links
- Medical encyclopedia article on ERCC6
- Wikipedia's article - ERCC6
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