{"symbol":"ERCC6","synonyms":["COFS","RAD26","UVSS1","ARMD5","POF11","CKN2","COFS1"],"name":"excision repair cross-complementation group 6","description":"This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3\u0027 splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]","ncbiEntrezGeneId":2074,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/2074","proteins":[{"symbol":"ERCC6_HUMAN","href":"/api/1.0/protein/ERCC6_HUMAN"}],"hgncRootFamilies":[]}