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Genetics Home Reference: your guide to understanding genetic conditions
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RAD50

The information on this page was automatically extracted from online scientific databases.

What is the official name of the RAD50 gene?

The official name of this gene is “RAD50 homolog, double strand break repair protein.”

RAD50 is the gene's official symbol. The RAD50 gene is also known by other names, listed below.

What is the normal function of the RAD50 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10111):

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]

From UniProt (http://www.uniprot.org/uniprot/Q92878):

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.

How are changes in the RAD50 gene related to health conditions?

UniProt (http://www.uniprot.org/uniprot/Q92878) provides the following information about the RAD50 gene's known or predicted involvement in human disease.

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.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10111) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the RAD50 gene.
  • Nijmegen breakage syndrome-like disorder
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the RAD50 gene and its association with health conditions.
OMIM
Number
Title

Where is the RAD50 gene located?

Cytogenetic Location: 5q31

Molecular Location on chromosome 5: base pairs 132,556,923 to 132,644,620

The RAD50 gene is located on the long (q) arm of chromosome 5 at position 31.

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 132,556,923 to base pair 132,644,620 on chromosome 5.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about RAD50?

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.

What other names do people use for the RAD50 gene or gene products?

  • hRad50
  • NBSLD
  • RAD502

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding RAD50?

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.

 
Published: July 27, 2015