LongevityMap Gene

Gene details

HGNC symbol
ERCC4 
Aliases
XPF; RAD1; FANCQ; XFEPS; ERCC11 
Common name
ERCC excision repair 4, endonuclease catalytic subunit 
Description
The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]
Cytogenetic Location
16p13.12
UCSC Genome Browser
View 16p13.12 on the UCSC genome browser
OMIM
133520
Ensembl
ENSG00000175595
UniProt/Swiss-Prot
B4DXD8_HUMAN
Entrez Gene
2072
UniGene
567265
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
C47D12.8
Danio rerio
ercc4
Drosophila melanogaster
mei-9
Mus musculus
Ercc4
Rattus norvegicus
LOC688631
Saccharomyces cerevisiae
RAD1
Schizosaccharomyces pombe
rad16

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Ercc4
GenAge human genes
  • This gene is present as ERCC4

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
rs3136202
Reference