Full name: ERCC excision repair 2, TFIIH core complex helicase subunit

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: COFS2; EM9; TFIIH; TTD; TTD1; XPD

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]

Expression: Ubiquitous expression in testis (RPKM 6.4), skin (RPKM 6.1) and 25 other tissues

Gene size: 20737bp

Exon count: 25