LongevityMap Gene
Gene details
- HGNC symbol
- ERCC6
- Aliases
- CSB; CKN2; COFS; ARMD5; COFS1; POF11; RAD26; UVSS1
- Common name
- ERCC excision repair 6, chromatin remodeling factor
- Description
- 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. [provided by RefSeq, Mar 2016]
- Cytogenetic Location
- 10q11.23
- UCSC Genome Browser
- View 10q11.23 on the UCSC genome browser
- OMIM
- 609413
- Ensembl
- ENSG00000225830
- UniProt/Swiss-Prot
- A8K4Q3_HUMAN
- Entrez Gene
- 2074
- UniGene
- 49063
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Danio rerio
- ercc6
- Mus musculus
- Ercc6
- Rattus norvegicus
- Ercc6
- Saccharomyces cerevisiae
- RAD26
- Schizosaccharomyces pombe
- rhp26
In other databases
- GenAge human genes
- This gene is present as ERCC6
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- 592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
- Conclusions
- The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
- Indentifier
- rs3793784
- Reference