Xeroderma Pigmentosum, Complementation Group G (XPG)

ERCC5  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.

The human genes correcting DNA repair defects are termed excision-repair cross-complementing or ERCC genes. A number appended to the symbol refers to the rodent complementary group that is corrected by the human gene. The ERCC5 gene corrects the excision repair deficiency of Chinese hamster ovary cell line UV135 of complementation group 5.