ERCC2

ERCC2 (Excision Repair Cross-Complementation Group 2) is a gene that provides instructions for making a protein involved in DNA repair and transcription. This protein is a part of a group of proteins known as the TFIIH core complex. The TFIIH core complex is involved in repairing damaged DNA, particularly the DNA damage that is caused by ultraviolet (UV) rays. This complex is also involved in controlling the activity of certain genes.

Function

The ERCC2 protein is essential for nucleotide excision repair (NER), a process that recognizes and corrects damage to DNA. This process is particularly important in repairing thymine dimers, which are major types of DNA damage caused by exposure to UV light. If these dimers are not repaired, errors may be introduced when the DNA is copied (replicated) in preparation for cell division.

Clinical significance

Mutations in the ERCC2 gene are associated with Xeroderma pigmentosum (XP), Trichothiodystrophy (TTD), and Cockayne syndrome (CS). These are all rare genetic disorders that cause skin abnormalities, neurological problems, and an increased risk of cancer.

See also

• DNA repair
• Xeroderma pigmentosum
• Trichothiodystrophy
• Cockayne syndrome

External links

• ERCC2 at NCBI
• ERCC2 at Genetics Home Reference