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Official Full Name
excision repair cross-complementation group 2
Background
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.
Synonyms
ERCC2; excision repair cross-complementing rodent repair deficiency, complementation group 2; xeroderma pigmentosum complementary group D , XPD; TFIIH basal transcription factor complex helicase XPD subunit; EM9; excision repair cross complementing rodent; excision repair cross complementing rodent repair deficiency; complementation group 2 protein; MAG; MGC102762; MGC126218; MGC126219; CXPD; BTF2 p80; TFIIH p80; TFIIH 80 kDa subunit; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; basic transcription factor 2 80 kDa subunit; xeroderma pigmentosum complementary group D; xeroderma pigmentosum group D-complementing protein; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH basal transcription factor complex helicase subunit; TTD; XPD; COFS2; excision repair cross-complementation group 2; zgc:56365