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ERCC8

excision repair cross-complementing rodent repair deficiency, complementation group 8

On chromosome: 5q12.1
Known also as: CSA; CKN1;

NCBI Gene ID:	1161
NCBI Ensembl Id:	ENSG00000049167
MIM Id: (from NCBI OMIM database)	609412
Species:	Homo sapiens

This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. [provided by RefSeq]

Gene sequence:

[Download sequence]

Proteins coded by this gene:

CSA (Homo sapiens)

Diseases related to this gene:

COCKAYNE SYNDROME, TYPE A (#216400 )

References:

Authors	Title	Journal
Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC	The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.	Cell Aug. 25, 1995
Selby CP, Sancar A	Human transcription-repair coupling factor CSB/ERCC6 is a DNA-stimulated ATPase but is not a helicase and does not disrupt the ternary transcription complex of stalled RNA polymerase II.	J Biol Chem Feb. 17, 1997
Groisman R, Polanowska J, Kuraoka I, Sawada J, Saijo M, Drapkin R, Kisselev AF, Tanaka K, Nakatani Y	The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage.	Cell May 2, 2003
Fousteri M, Vermeulen W, van Zeeland AA, Mullenders LH	Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo.	Mol Cell Aug. 1, 2006

Keywords:

Last modification of this entry: Oct. 19, 2010.

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