Gene Symbol | ERCC2 |
Entrez Gene ID | 2068 |
Full Name | ERCC excision repair 2, TFIIH core complex helicase subunit |
Synonyms | COFS2,EM9,TFIIH,TTD,TTD1,XPD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Xeroderma pigmentosum, group D, 278730 (3); Trichothiodystrophy 1, photosensitive, 601675 (3); ?Cerebrooculofacioskeletal syndrome 2, 610756 (3) |