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The official name of this gene is “RAD50 double strand break repair protein.”
RAD50 is the gene's official symbol. The RAD50 gene is also known by other names, listed below.
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]
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 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.
Nijmegen breakage syndrome-like disorder (NBSLD): 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. The disease is caused by mutations affecting the gene represented in this entry.
|613078 (http://omim.org/entry/613078)||NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER|
|604040 (http://omim.org/entry/604040)||RAD50, S. CEREVISIAE, HOMOLOG OF|
Cytogenetic Location: 5q31
Molecular Location on chromosome 5: base pairs 132,556,924 to 132,644,621
The RAD50 gene is located on the long (q) arm of chromosome 5 at position 31.
More precisely, the RAD50 gene is located from base pair 132,556,924 to base pair 132,644,621 on chromosome 5.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about RAD50 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
cell ; cell cycle ; degradation ; DNA ; DNA damage ; DNA recombination ; endonuclease ; gene ; homology ; immunodeficiency ; kinase ; meiosis ; microcephaly ; nuclease ; protein ; radiation ; sensitivity ; short stature ; stature ; syndrome ; telomere
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.