XPD is involved with the nucleotide excision repair pathway that 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.
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Protein Aliases: Basic transcription factor 2 80 kDa subunit; BTF2 p80; CXPD; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; excision repair cross-complementation group 2; excision repair cross-complementing rodent repair deficiency, complementation group 2; General transcription and DNA repair factor IIH helicase subunit XPD; MGC102762; MGC126218; MGC126219; TFIIH 80 kDa subunit; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH basal transcription factor complex helicase subunit; TFIIH basal transcription factor complex helicase XPB subunit; TFIIH p80; TFIIH subunit XPD; xeroderma pigmentosum complementary group D; Xeroderma pigmentosum group D-complementing protein
Gene Aliases: COFS2; EM9; ERCC2; TFIIH; TTD; TTD1; XPD; XPDC
UniProt ID: (Human) P18074
Entrez Gene ID: (Human) 2068
Molecular Function: DNA helicase