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
- 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