Entrez gene ID | | 2068 |
Official gene symbol | | ERCC2 |
Full name | | excision repair cross-complementing rodent repair deficiency, complementation group 2 |
Aliases | | ,COFS2,EM9,MGC102762,MGC126218,MGC126219,TTD,XPD, |
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] |
Location | | Chromosome: 19 Locus: 19q13.3 |
Gene position | | 45873845 - 45854649 Map Viewer |
Gene orientation | | minus |
Gene size | | 19197 bp |
Gene sequence |
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OMIM ID | | 126340 |
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