ERCC2 Gene

**Semantic type:** Gene or Genome

**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)

**Synonyms:** - XP, Group D - XP4 - XPD - XPD Gene - XPDC