PBS pH7.3, 50% glycerol, 0.02% sodium azide
Recombinant fusion protein containing a sequence corresponding to amino acids 435-754 of human NBN (NP_002476.2).
Purified by affinity chromatography
For In vitro laboratory use only. Not for any clinical, therapeutic, or diagnostic use in humans or animals. Not for animal or human consumption.
AT V2 Antibody , P95 Antibody , ATV Antibody , AT V1 Antibody , nibrin Antibody , NBS Antibody , NBN Antibody
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. [provided by RefSeq, Jul 2008]