Rad50 è un gene codificato dal simbolo RAD50. È noto anche come DNA repair protein hRAD50. Rad50 ha una massa di 153.89kDa, una lunghezza di amminoacidi di 1312, ed è implicato in Nijmegen breakage syndrome-like disorder.
Offriamo 11 anticorpi contro Rad50, allevati nel Coniglio, che sono adatti per WB, IHC, ELISA e IP con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo 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).
Sommario di 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.
Specificità del tessuto
Expressed at very low level in most tissues, except in testis where it is expressed at higher level. Expressed in fibroblasts.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the SMC family. RAD50 subfamily.
Posizione cellulare
Nucleus. Chromosome > Telomere. Chromosome.
Localizes to discrete nuclear foci after treatment with genotoxic agents.
