ERCC8, Official Symbol ERCC8provided by HGNC Official Full Name ERCC excision repair 8, CSA ubiquitin ligase complex subunitprovided by HGNC Primary source HGNC:HGNC:3439 See related Ensembl:ENSG00000049167 MIM:609412; AllianceGenome:HGNC:3439 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 CSA; CKN1; UVSS2 Summary This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in testis (RPKM 4.1), thyroid (RPKM 3.2) and 25 other tissues See more Orthologs mouse all