Kalpana Kalpana (Editor)

ERCC5

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Species
  
Entrez
  
2073

Human
  
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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