Rad50 ist ein Gen, das durch das Symbol RAD50 kodiert wird. Es ist auch bekannt als DNA repair protein hRAD50. Rad50 hat eine Masse von 153.89kDa, eine Aminosäurelänge von 1312, und ist an Nijmegen breakage syndrome-like disorder beteiligt.
Wir bieten 11 antikörper gegen Rad50, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ELISA and IP mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Component of the 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 MRE11. 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 MRE11 to prevent nucleolytic degradation past a given point (PubMed:11741547, PubMed:9590181, PubMed:9705271, PubMed:9651580). The complex may also be required for DNA damage signaling via activation of the ATM kinase (PubMed:15064416). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888).
Entrez Zusammenfassung
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.
Gewebespezifität
Expressed at very low level in most tissues, except in testis where it is expressed at higher level. Expressed in fibroblasts.
Rolle bei Krankheiten
Nijmegen breakage syndrome-like disorder: A disorder similar to Nijmegen breakage syndrome and characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, short stature and bird-like face. Immunodeficiency is absent.
Sequenzähnlichkeiten
Belongs to the SMC family. RAD50 subfamily.
Zellort
Nucleus. Chromosome > Telomere. Chromosome.
Localizes to discrete nuclear foci after treatment with genotoxic agents.
