RAD50, Official Symbol RAD50provided by HGNC Official Full Name RAD50 double strand break repair proteinprovided by HGNC Primary source HGNC:HGNC:9816 See related Ensembl:ENSG00000113522 MIM:604040; AllianceGenome:HGNC:9816 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NBSLD; RAD502; hRad50 Summary 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] Expression Ubiquitous expression in testis (RPKM 10.5), thyroid (RPKM 10.5) and 25 other tissues See more Orthologs mouse all