Description
Product Characteristics: ERCC2(TFIIH basal transcription factor complex helicase subunit) is an ATP-dependent 5'-3' DNA helicase, component of the core-TFIIH basal transcription factor. ERCC2 is involved in nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to the core-TFIIH complex. ERCC2 might also have a role in aging process and could play a causative role in the generation of skin cancers. One of the six subunits forming the core-TFIIH basal transcription factor. The interaction with p44 results in the stimulation of the 5'-->3' helicase activity. Defects in ERCC2 are the cause of xeroderma pigmentosum complementation group D (XP-D), xeroderma pigmentosum group D combined with Cockayne syndrome (XP-D/CS). Defects in ERCC2 are a cause of trichothiodystrophy (TTD) and COFS syndrome. ERCC2 belongs to the helicase family and RAD3/XPD subfamily.
Target Information: 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]