- 1. CXPD
- [Encoded by human ERCC2 Gene (RAD3/XPD Family), 760-aa 87-kDa nuclear DNA Excision Repair Protein ERCC2 is an ATP-dependent 5 prime-3 prime DNA helicase and one of six integral subunits of the basal transcription factor BTF2/TFIIH complex. Recruited by transcription preinitiation or DNA damage recognition complexes, ERCC2 is involved in RNA polymerase II transcription, transcription-coupled nucleotide excision DNA repair, and cell cycle regulation. ERCC2/MAT1 anchors CAK complex to the TFIIH complex. CAK inhibits ERCC2 helicase activity; overcome by binding TFIIH subunit p44, which stimulates helicase activity. ERCC2 defects result in XPD, XPD/CS, TTD, and COFS Syndrome. (NCI) ( NCI )] (UMLS (NCI) C0168553) =Amino Acid, Peptide, or Protein; Biologically Active Substance ;
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