The RAD50 gene homepage
| General information |
| Gene symbol |
RAD50 |
| Gene name |
RAD50 homolog (S. cerevisiae) |
| Chromosome |
5 |
| Chromosomal band |
q23-q31 |
| Imprinted |
- |
| Genomic reference |
NG_021151.1 |
| Transcript reference |
NM_005732.3 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
40 |
| Unique public DNA variants reported |
28 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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]
Also known as: NBSLD; RAD502; hRad50 |
| Date created |
May 04, 2013 |
Active transcripts
| Copyright & disclaimer |
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