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: Cell cycle regulation; DNA repair, damage

Chromosomal Location of Human Ortholog: 8q21.3

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

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

Biological Process: cell cycle arrest; DNA damage checkpoint; DNA damage response, signal transduction by p53 class mediator; DNA double-strand break processing; DNA duplex unwinding; DNA replication; DNA synthesis during DNA repair; double-strand break repair; double-strand break repair via homologous recombination; double-strand break repair via nonhomologous end joining; mitotic cell cycle checkpoint; mitotic cell cycle G2/M transition DNA damage checkpoint; positive regulation of kinase activity; positive regulation of protein amino acid autophosphorylation; positive regulation of telomere maintenance; regulation of DNA replication initiation; strand displacement; telomere maintenance; telomeric 3' overhang formation

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