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
Gene: PGBD3
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs1198241866 in
ERCC6;PGBD3 gene and
Cerebrooculofacioskeletal Syndrome 1
PMID 11809892 2002 Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells.
PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
PMID 18784753 2008 CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response.
PMID 21143350 2011 Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex.
rs1198241866 in
ERCC6;PGBD3 gene and
Cockayne Syndrome, Type II
PMID 11809892 2002 Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells.
PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
PMID 21143350 2011 Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex.
PMID 18784753 2008 CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response.
rs1198241866 in
ERCC6;PGBD3 gene and
De Sanctis-Cacchione syndrome
PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
PMID 11809892 2002 Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells.
PMID 21143350 2011 Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex.
PMID 18784753 2008 CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response.