The human XPB DNA helicase is a subunit of the DNA repair/basal transcription factor TFIIH, and is involved in early steps of the nucleotide excision repair (NER) pathway. Two distinct clinical phenotypes, xeroderma pigmentosum associated with Cockayne's syndrome (XP/CS) and trichothiodystrophy (TTD), can be due to mutations in the XPB gene.
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Protein Aliases: Basic transcription factor 2 89 kDa subunit; BTF2 p89; BTF2-p89; DNA excision repair protein ERCC-3; DNA repair helicase; DNA repair protein complementing XP-B cells; excision repair 3; excision repair cross-complementation group 3; excision repair cross-complementing rodent repair deficiency, complementation group 3; General transcription and DNA repair factor IIH helicase subunit XPB; TFIIH 89 kDa subunit; TFIIH basal transcription factor complex 89 kDa subunit; TFIIH basal transcription factor complex helicase XPB subunit; TFIIH p89; TFIIH subunit XPB; Xeroderma pigmentosum group B-complementing protein; xeroderma pigmentosum, complementation group B
Gene Aliases: BTF2; BTF2 p89; Ercc-3; ERCC3; GTF2H; RAD25; TFIIH; TTD2; XPB; XPBC