NBN Antibody – Mouse Monoclonal

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]

NBS1: a member of the MRE11/RAD50 double-strand break repair complex. Involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. Mutation results in the Nijmegen breakage syndrome (NBS), an autosomal recessive chromosomal instability syndrome.

Protein type: DNA repair, damage; Cell cycle regulation

Chromosomal Location of Human Ortholog: 8q21

Cellular Component: nucleoplasm; PML body; Mre11 complex; nuclear chromosome, telomeric region; nucleolus; replication fork; nucleus; nuclear inclusion body

Molecular Function: ATP-dependent DNA helicase activity; protein binding; damaged DNA binding; protein N-terminus binding; transcription factor binding

Biological Process: DNA damage response, signal transduction by p53 class mediator; mitotic cell cycle checkpoint; positive regulation of kinase activity; isotype switching; DNA repair; positive regulation of protein amino acid autophosphorylation; double-strand break repair via homologous recombination; DNA duplex unwinding; regulation of DNA replication initiation; cell proliferation; meiotic cell cycle; mitotic cell cycle G2/M transition DNA damage checkpoint; double-strand break repair; DNA damage checkpoint; blastocyst growth; cell cycle arrest; neuromuscular process controlling balance; telomere maintenance

Disease: Leukemia, Acute Lymphoblastic; Nijmegen Breakage Syndrome; Aplastic Anemia