Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Nibrin antibody can be used in Western Blot starting at 1:1000 - 1:5000, immunohistochemistry starting at 20 μg/mL, immunocytochemistry starting at 1:100 - 1:500, immunoprecipitation, and flow cytometry.
Phosphate-buffered solution, pH 7.2, 0.09% sodium azide, 50% glycerol.
Aliquot and store at -20°C. Avoid multiple freeze-thaw cycles.
Reactivity: Human, Mouse