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
- xpf-1
- Danio rerio
- ercc4
- Drosophila melanogaster
- mei-9
- Mus musculus
- Ercc4
- Rattus norvegicus
- AC117889.1
- Rattus norvegicus
- Ercc4
- 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