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ERCC5

excision repair cross-complementing rodent repair deficiency, complementation group 5

On chromosome: 13q33
Known also as: XPG; UVDR; XPGC; COFS3; ERCM2;


NCBI Gene ID: 2073
NCBI Ensembl Id: ENSG00000134899
MIM Id: (from NCBI OMIM database) 133530
Species: Homo sapiens

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]


Gene sequence:
[Download sequence]

Proteins coded by this gene:
Diseases related to this gene:
References:

Authors Title Journal
O'Donovan A, Davies AA, Moggs JG, West SC, Wood RD XPG endonuclease makes the 3' incision in human DNA nucleotide excision repair. Nature Sept. 1, 1994
Iyer N, Reagan MS, Wu KJ, Canagarajah B, Friedberg EC Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein. Biochemistry Jan. 20, 1996
Wood RD DNA damage recognition during nucleotide excision repair in mammalian cells. Biochimie Jan. 1, 1999
Hohl M, Thorel F, Clarkson SG, Scharer OD Structural determinants for substrate binding and catalysis by the structure-specific endonuclease XPG. J Biol Chem May 23, 2003
Sarker AH, Tsutakawa SE, Kostek S, Ng C, Shin DS, Peris M, Campeau E, Tainer JA, Nogales E, Cooper PK Recognition of RNA polymerase II and transcription bubbles by XPG, CSB, and TFIIH: insights for transcription-coupled repair and Cockayne Syndrome. Mol Cell Oct. 28, 2005

Last modification of this entry: Oct. 6, 2010.

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