NIBRIN Antibody – Rabbit

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

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