LongevityMap Gene

Gene details

HGNC symbol
RAD50 
Aliases
NBSLD; RAD502; hRad50 
Common name
RAD50 double strand break repair protein 
Description
The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]
Cytogenetic Location
5q31.1
UCSC Genome Browser
View 5q31.1 on the UCSC genome browser
OMIM
604040
Ensembl
ENSG00000113522
UniProt/Swiss-Prot
A5D6Y3_HUMAN
Entrez Gene
10111
UniGene
633509
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
rad-50
Danio rerio
rad50
Drosophila melanogaster
rad50
Mus musculus
Rad50
Rattus norvegicus
Rad50
Saccharomyces cerevisiae
RAD50
Schizosaccharomyces pombe
rad50

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as RAD50

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
rs2706370
Reference