Preferred Label : ERCC2 Gene;
Obsolete resource : true;
NCIt synonyms : XPDC; XP4; XPD Gene; XPD; XP, Group D;
NCIt 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);
Concept status : Retired_Concept;
GenBank Accession Number : NM_000400;
Origin ID : C20657;
OMIM relation
- Semantic type(s)
