ERCC2 gene
ERCC2 gene is a gene in humans that encodes a protein known as Excision Repair Cross-Complementation Group 2. This protein is a part of the TFIIH core complex, which is involved in transcription and DNA repair.
Function[edit | edit source]
The ERCC2 gene provides instructions for making a protein that is involved in DNA repair and transcription. This protein is a part of the TFIIH core complex, which is involved in transcription and DNA repair. When DNA is damaged, this protein helps to open up the DNA helix so that the damaged DNA can be accessed and repaired.
Clinical significance[edit | edit source]
Mutations in the ERCC2 gene have been associated with xeroderma pigmentosum (XP), trichothiodystrophy (TTD), and Cockayne syndrome (CS). These are all rare genetic disorders that cause sensitivity to sunlight and an increased risk of skin cancer.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
