Exon 13,14 (RAD50) Antibody – Rabbit Polyclonal

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.

RAD50: a component of the Mre11-Rad50-NBS1 (MRN) complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11A to prevent nucleolytic degradation past a given point. The complex may also be required for DNA damage signaling via activation of the ATM kinase. In telomeres the MRN complex may modulate t-loop formation. Three alternatively spliced isoforms have been described.

Protein type: Hydrolase; Adaptor/scaffold; DNA repair, damage; EC 3.6.-.-

Chromosomal Location of Human Ortholog: 5q31

Cellular Component: nucleoplasm; Mre11 complex; nuclear chromosome, telomeric region; membrane; pronucleus

Molecular Function: ATP-dependent DNA helicase activity; protein binding, bridging; protein binding; DNA binding; single-stranded DNA specific endodeoxyribonuclease activity; metal ion binding; 3'-5' exonuclease activity; ATP binding

Biological Process: positive regulation of kinase activity; telomere maintenance via telomerase; DNA repair; regulation of mitotic recombination; positive regulation of protein amino acid autophosphorylation; DNA catabolic process, endonucleolytic; double-strand break repair via homologous recombination; DNA duplex unwinding; DNA recombination; double-strand break repair; meiotic recombination; response to DNA damage stimulus; telomere maintenance

Disease: Nijmegen Breakage Syndrome-like Disorder