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The official name of this gene is “RAD50 homolog (S. cerevisiae).”
RAD50 is the gene's official symbol. The RAD50 gene is also known by other names, listed below.
The RAD50 gene provides instructions for making a protein that is involved in several critical cellular functions, including the repair of damaged DNA.
The RAD50 protein binds to strands of damaged DNA and holds the broken ends together during the repair process. It interacts with two other proteins, produced from the MRE11A and NBN genes, as part of a larger protein complex. These proteins work together to mend broken strands of DNA, which prevents cells from accumulating genetic damage that can trigger them to divide uncontrollably. By repairing damaged DNA, the MRE11A/RAD50/NBN complex helps maintain the stability of a cell's genetic information.
The MRE11A/RAD50/NBN complex interacts with the protein produced from the ATM gene, which plays an essential role in recognizing broken strands of DNA and coordinating their repair. DNA can be damaged by agents such as toxic chemicals or radiation, and breaks in DNA strands also occur naturally when chromosomes exchange genetic material in preparation for cell division.
Some research suggests that inherited mutations in the RAD50 gene are associated with an increased risk of developing breast cancer. Other studies have not found this connection, and researchers believe that mutations in the RAD50 gene are not a major genetic risk factor for developing this disease.
RAD50 mutations can lead to the production of an abnormally small, nonfunctional version of the RAD50 protein. When this protein is defective or missing, cells may be unable to respond effectively to DNA damage. As defects accumulate in DNA, they can trigger cells to grow and divide uncontrollably and form a tumor.
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.
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.
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.
cancer ; cell ; cell division ; DNA ; DNA damage ; DNA repair ; gene ; protein ; radiation ; telomere ; toxic ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/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.