Gene: ERCC6

Alternate names for this Gene: ARMD5|CKN2|COFS|COFS1|CSB|CSB-PGBD3|POF11|RAD26|UVSS1

Gene Summary: This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene.

Gene is located in Chromosome: 10

Location in Chromosome : 10q11.23

Description of this Gene: ERCC excision repair 6, chromatin remodeling factor

Type of Gene: protein-coding

rs4253197 in ERCC6 gene and Alcohol consumption PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs121917905 in ERCC6 gene and Cerebrooculofacioskeletal Syndrome 1 PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PMID 26620705 2016 The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair.

PMID 27004399 2016 Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

PMID 25356239 2014 A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome.

PMID 9443879 1998 Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

PMID 27186691 2017 Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene.

PMID 26218421 2015 CSB-PGBD3 Mutations Cause Premature Ovarian Failure.

rs1287286877 in ERCC6 gene and Cockayne Syndrome, Type II PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PMID 10447254 1999 A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

PMID 25820262 2015 Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.

PMID 9443879 1998 Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

PMID 29203878 2017 ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice.

PMID 26620705 2016 The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair.

PMID 27004399 2016 Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

PMID 25356239 2014 A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome.

PMID 26218421 2015 CSB-PGBD3 Mutations Cause Premature Ovarian Failure.

PMID 27186691 2017 Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene.

rs121917901 in ERCC6 gene and De Sanctis-Cacchione syndrome PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PMID 27004399 2016 Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

PMID 18628313 2008 Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 27356891 2016 Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.

PMID 26620705 2016 The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair.

PMID 29572252 2018 Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.

PMID 23311583 2013 A possible cranio-oro-facial phenotype in Cockayne syndrome.

PMID 28440418 2017 Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.

PMID 25356239 2014 A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome.

PMID 9443879 1998 Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

PMID 26218421 2015 CSB-PGBD3 Mutations Cause Premature Ovarian Failure.

PMID 27186691 2017 Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene.

rs1554794342 in ERCC6 gene and Dysmorphic features PMID 26204423 2016 The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

PMID 26749132 2016 Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.

PMID 10767341 2000 Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.

PMID 1372469 1992 Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.

PMID 23428416 2013 Cockayne syndrome: the expanding clinical and mutational spectrum.

PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PMID 18628313 2008 Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.

rs1554794342 in ERCC6 gene and Movement Disorders PMID 26204423 2016 The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

PMID 23428416 2013 Cockayne syndrome: the expanding clinical and mutational spectrum.

PMID 26749132 2016 Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.

PMID 18628313 2008 Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.

PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PMID 1372469 1992 Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.

PMID 10767341 2000 Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.