RAD50

Also known as NBSLD, RAD502, hRad50, RAD50 double strand break repair protein

DNA repair protein RAD50, also known as RAD50, is a protein that in humans is encoded by the RAD50 gene.

Gene data

RAD50

Name: RAD50 double strand break repair protein
Type: protein-coding
Position: 132,556,019–132,646,349 (+)
Aliases: NBSLD, RAD502, hRad50
Ensembl: ENSG00000113522
RefSeq RNA: NM_005732.4, NM_133482.1
RefSeq protein: NP_005723.2

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].