XPD Gene
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XPD Gene Definition
Human ERCC2 Gene (RAD3/XPD Family) encodes 760-aa 87-kDa nuclear DNA Excision Repair Protein ERCC2, 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)
XPD Gene Synonyms
ERCC2 Gene, XP, Group D, XP4, XPD, XPD Gene, XPDC
Terms in XPD Gene category
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