Protein Name | ERCC excision repair 2, TFIIH core complex helicase subunit |
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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] |
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