| ncRNA Symbol: | ERCC2 | | Full Name: | ERCC excision repair 2, TFIIH core complex helicase subunit | | Category: | mRNA | | Synonyms: | COFS2|EM9|TFIIH|TTD|TTD1|XPD | | Chromosome: | chr19 | | Strand: | - | | Coordinate: | | Start Site(bp): | 45349837 | End Site(bp): | 45370918 |
| | 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] | | External Links: | |
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