Entrez gene ID | | 2073 |
Official gene symbol | | ERCC5 |
Full name | | excision repair cross-complementing rodent repair deficiency, complementation group 5 |
Aliases | | ,COFS3,ERCM2,UVDR,XPG,XPGC, |
Gene summary | | Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G) is involved in excision repair of UV-induced DNA damage. Mutations cause Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been described, but the biological validity of all variants has not been determined. [provided by RefSeq] |
Location | | Chromosome: 13 Locus: 13q33 |
Gene position | | 103498174 - 103528345 Map Viewer |
Gene orientation | | plus |
Gene size | | 30172 bp |
Gene sequence |
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OMIM ID | | 133530 |
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