Kalpana Kalpana

ERCC5

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Species  Human
Entrez  2073
Human  Mouse
Ensembl  ENSG00000134899
ERCC5
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 .

Interactions

ERCC5 has been shown to interact with ERCC2.

References

ERCC5 Wikipedia


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