ERCC2, Official Symbol ERCC2provided by HGNC Official Full Name ERCC excision repair 2, TFIIH core complex helicase subunitprovided by HGNC Primary source HGNC:HGNC:3434 See related Ensembl:ENSG00000104884 MIM:126340; AllianceGenome:HGNC:3434 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EM9; TTD; XPD; TTD1; COFS2; TFIIH Summary 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] Expression Ubiquitous expression in testis (RPKM 6.4), skin (RPKM 6.1) and 25 other tissues See more Orthologs mouse all