Rad50 est un gène codé par le symbole RAD50. Il est également connu sous le nom de DNA repair protein hRAD50. Rad50 a une masse de 153.89kDa, une longueur d'acide aminé de 1312, et est impliqué dans Nijmegen breakage syndrome-like disorder.
Nous proposons 11 des anticorps contre Rad50, élevé dans Lapin, qui sont appropriés pour le WB, IHC, ELISA et IP avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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).
Résumé Entrez
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.
Spécificité tissulaire
Expressed at very low level in most tissues, except in testis where it is expressed at higher level. Expressed in fibroblasts.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the SMC family. RAD50 subfamily.
Localisation cellulaire
Nucleus. Chromosome > Telomere. Chromosome.
Localizes to discrete nuclear foci after treatment with genotoxic agents.
