Entrez 2073 | Ensembl ENSG00000134899 | |
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Aliases ERCC5, COFS3, ERCM2, UVDR, XPG, XPGC, ERCC5-201, excision repair cross-complementation group 5, ERCC excision repair 5, endonuclease External IDs MGI: 103582 HomoloGene: 133551 GeneCards: ERCC5 |
DNA repair protein complementing XP-G cells is a protein that in humans is encoded by the ERCC5 gene.
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.
Mutations in ERCC5 cause arthrogryposis .
References
ERCC5 Wikipedia(Text) CC BY-SA