Protein Name ERCC excision repair 2, TFIIH core complex helicase subunit
Organism Homo sapiens
Gene ID 2068
Gene Symbol

ERCC2

UniProt P18074 (ERCC2_HUMAN)
Relationships Total Number of functionally related compound(s) : 167
Total Number of Articles : 366
Description

ERCC excision repair 2, TFIIH core complex helicase subunit

Gene Summary

The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

synonyms
  • general transcription and DNA repair factor IIH helicase subunit XPD
  • BTF2 p80
  • CXPD
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Properties