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
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