ERCC5, Official Symbol ERCC5provided by HGNC Official Full Name ERCC excision repair 5, endonucleaseprovided by HGNC Primary source HGNC:HGNC:3437 See related Ensembl:ENSG00000134899 MIM:133530; AllianceGenome:HGNC:3437 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 XPG; UVDR; XPGC; COFS3; ERCM2; ERCC5-201 Summary This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in lymph node (RPKM 16.5), duodenum (RPKM 16.5) and 25 other tissues See more Orthologs mouse all