ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6)

2001-09-01   Anne Stary , Alain Sarasin 

Laboratory of Genetic Instability, Cancer, UPR2169 CNRS, Institut de Recherches sur le Cancer, 7, rue guy Moquet, BP 8, 94801 VILLEJUIF, France


Atlas Image
ERCC6 (10q11-10q21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.



4714 b



1493 amino acids ; 168415 Da


The Cockayne syndrome B (CSB) gene encodes for a DNA-dependent ATPase which is involved in the preferential repair of active genes. The CSB gene product is recruited to RNA polymerase II complexes and enhances elongation on an undamaged template by a factor of about three.



13 base substitutions ; 4 small deletions ; 3 small insertions ; 2 gross rearrangements

Implicated in

Entity name
Cockayne syndrome, CS group B
The Cockayne syndrome B is characterized by sensitivity to sunlight, dwarfism, precociously senile appearance, pigmentary retinal degeneration, optic atrophy and deafness.


Pubmed IDLast YearTitleAuthors
106985172000Role of the ATPase domain of the Cockayne syndrome group B protein in UV induced apoptosis.Balajee AS et al
88761791996UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells.Bregman DB et al
105642571999The ATPase domain but not the acidic region of Cockayne syndrome group B gene product is essential for DNA repair.Brosh RM Jr et al
77679571995Development of a new easy complementation assay for DNA repair deficient human syndromes using cloned repair genes.Carreau M et al
110036602000ATP-dependent chromatin remodeling by the Cockayne syndrome B DNA repair-transcription-coupling factor.Citterio E et al
75349231994Prenatal diagnosis of xeroderma pigmentosum and Cockayne syndrome.Cleaver JE et al
101963841999Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity.Colella S et al
108510712000Proneness to UV-induced apoptosis in human fibroblasts defective in transcription coupled repair is associated with the lack of Mdm2 transactivation.Conforti G et al
99736271999Repair of 8-oxoguanine in DNA is deficient in Cockayne syndrome group B cells.Dianov G et al
92784841997Reduced RNA polymerase II transcription in extracts of cockayne syndrome and xeroderma pigmentosum/Cockayne syndrome cells.Dianov GL et al
108436712000Transcription-coupled and global genome repair differentially influence UV-B-induced acute skin effects and systemic immunosuppression.Garssen J et al
114520332001Deletion of the CSB homolog, RAD26, yields Spt(-) strains with proficient transcription-coupled repair.Gregory SM et al
108395262000DNA repair. The bases for Cockayne syndrome.Hanawalt PC et al
113201482001Analysis of repair and PCNA complex formation induced by ionizing radiation in human fibroblast cell lines.Karmakar P et al
102149191999Repair and mutagenesis survey of 8-hydroxyguanine in bacteria and human cells.Le Page F et al
107868322000Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome.Le Page F et al
112389172001Disruption of the Cockayne syndrome B gene impairs spontaneous tumorigenesis in cancer-predisposed Ink4a/ARF knockout mice.Lu Y et al
115169292001Ultraviolet radiation alters the phosphorylation of RNA polymerase II large subunit and accelerates its proteasome-dependent degradation.Luo Z et al
94438791998Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.Mallery DL et al
111825412001UV light-induced degradation of RNA polymerase II is dependent on the Cockayne's syndrome A and B proteins but not p53 or MLH1.McKay BC et al
88110841996The human CSB (ERCC6) gene corrects the transcription-coupled repair defect in the CHO cell mutant UV61.Orren DK et al
89725301996Cockayne syndrome: review of 25 cases.Ozdirim E et al
103320461999The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes.Riou L et al
109734772000UV-induced inhibition of transcription involves repression of transcription initiation and phosphorylation of RNA polymerase II.Rockx DA et al
93078431997Human cancer and DNA repair-deficient diseases.Sarasin A et al
93265871997Cockayne syndrome group B protein enhances elongation by RNA polymerase II.Selby CP et al
88342351996Genetic analysis of twenty-two patients with Cockayne syndrome.Stefanini M et al
109319312000Molecular characterization of an acidic region deletion mutant of Cockayne syndrome group B protein.Sunesen M et al
98643911999Enhancement of XPG mRNA transcription by human interferon-beta in Cockayne syndrome cells with complementation group B.Suzuki Y et al
97743881998RNA polymerase II elongation complexes containing the Cockayne syndrome group B protein interact with a molecular complex containing the transcription factor IIH components xeroderma pigmentosum B and p62.Tantin D et al
93729111997Recruitment of the putative transcription-repair coupling factor CSB/ERCC6 to RNA polymerase II elongation complexes.Tantin D et al
83827981993Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne's syndrome group B.Troelstra C et al
23529451990The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.Venema J et al
110597602000The relationship between benzo[a]pyrene-induced mutagenesis and carcinogenesis in repair-deficient Cockayne syndrome group B mice.Wijnhoven SW et al
108821162000Activation of p53 or loss of the Cockayne syndrome group B repair protein causes metaphase fragility of human U1, U2, and 5S genes.Yu A et al
93120531997The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex.van Gool AJ et al
110058362000Differential role of transcription-coupled repair in UVB-induced G2 arrest and apoptosis in mouse epidermis.van Oosten M et al
87548441996The sensitivity of Cockayne's syndrome cells to DNA-damaging agents is not due to defective transcription-coupled repair of active genes.van Oosterwijk MF et al
91501421997Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition.van der Horst GT et al

Other Information

Locus ID:

NCBI: 2074
MIM: 609413
HGNC: 3438
Ensembl: ENSG00000225830


dbSNP: 2074
ClinVar: 2074
TCGA: ENSG00000225830


Gene IDTranscript IDUniprot

Expression (GTEx)



PathwaySourceExternal ID
Nucleotide excision repairKEGGko03420
Nucleotide excision repairKEGGhsa03420
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionREACTOMER-HSA-504046
RNA Polymerase I TranscriptionREACTOMER-HSA-73864
RNA Polymerase I Promoter ClearanceREACTOMER-HSA-73854
RNA Polymerase I Transcription InitiationREACTOMER-HSA-73762
Epigenetic regulation of gene expressionREACTOMER-HSA-212165
Nucleotide Excision RepairREACTOMER-HSA-5696398
Transcription-Coupled Nucleotide Excision Repair (TC-NER)REACTOMER-HSA-6781827
Formation of TC-NER Pre-Incision ComplexREACTOMER-HSA-6781823
Dual incision in TC-NERREACTOMER-HSA-6782135
Gap-filling DNA repair synthesis and ligation in TC-NERREACTOMER-HSA-6782210
Positive epigenetic regulation of rRNA expressionREACTOMER-HSA-5250913
B-WICH complex positively regulates rRNA expressionREACTOMER-HSA-5250924
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expressionREACTOMER-HSA-427389


Pubmed IDYearTitleCitations
169166362006Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo.170
162467222005Recognition of RNA polymerase II and transcription bubbles by XPG, CSB, and TFIIH: insights for transcription-coupled repair and Cockayne Syndrome.86
124192262002CSB is a component of RNA pol I transcription.85
167511802006CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome.84
179967032007Damage-induced ubiquitylation of human RNA polymerase II by the ubiquitin ligase Nedd4, but not Cockayne syndrome proteins or BRCA1.83
177072302007Activation of RNA polymerase I transcription by cockayne syndrome group B protein and histone methyltransferase G9a.76
198942502010Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.71
224739552012Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy.67
167723822006Cockayne syndrome group B protein (CSB) plays a general role in chromatin maintenance and remodeling.64
191163882009A field synopsis on low-penetrance variants in DNA repair genes and cancer susceptibility.63


Anne Stary ; Alain Sarasin

ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6)

Atlas Genet Cytogenet Oncol Haematol. 2001-09-01

Online version: