Gene: PGBD3

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs1554793270 in PGBD3;ERCC6 gene and Cerebrooculofacioskeletal Syndrome 1 PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

rs1554793270 in PGBD3;ERCC6 gene and Cockayne Syndrome, Type II PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

rs1554793270 in PGBD3;ERCC6 gene and De Sanctis-Cacchione syndrome PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.