LongevityMap Gene
Gene details
- HGNC symbol
- ERCC8
- Aliases
- CSA; CKN1; UVSS2
- Common name
- ERCC excision repair 8, CSA ubiquitin ligase complex subunit
- Description
- This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
- Cytogenetic Location
- 5q12.1
- UCSC Genome Browser
- View 5q12.1 on the UCSC genome browser
- OMIM
- 609412
- Ensembl
- ENSG00000049167
- UniProt/Swiss-Prot
- A0A0S2Z3L1_HUMAN
- Entrez Gene
- 1161
- UniGene
- 435237
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Danio rerio
- ercc8
- Mus musculus
- Ercc8
- Rattus norvegicus
- Ercc8
- Saccharomyces cerevisiae
- RAD28
- Schizosaccharomyces pombe
- ckn1
In other databases
- GenAge human genes
- This gene is present as ERCC8
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
- rs1021005
- Reference