{"symbol":"ERCC2","synonyms":["COFS2","TFIIH","TTD1","TTD","EM9","XPD"],"name":"excision repair cross-complementation group 2","description":"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]","ncbiEntrezGeneId":2068,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/2068","proteins":[{"symbol":"ERCC2_HUMAN","href":"/api/1.0/protein/ERCC2_HUMAN"}],"hgncRootFamilies":[{"name":"General transcription factors (GTF)","href":"/api/1.0/gene_family/General+transcription+factors+%28GTF%29"}]}