|Application ||WB, IHC, FC, ICC, E|
|Description||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.|
|Immunogen||Purified recombinant fragment of human NBN (AA: 467-615) expressed in E. Coli.|
|Formulation||Purified antibody in PBS with 0.05% sodium azide.|
|Other Names||Nibrin, Cell cycle regulatory protein p95, Nijmegen breakage syndrome protein 1, NBN, NBS, NBS1, P95|
WB~~1/500 - 1/2000
IF~~1/200 - 1/1000
FC~~1/200 - 1/400
IHC~~1/200 - 1/1000
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||NBN Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|Synonyms||NBS, NBS1, P95|
|Function||Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recruiting PI3/PI4-kinase family members ATM, ATR, and probably DNA-PKcs to the DNA damage sites and activating their functions. It can also recruit MRE11 and RAD50 to the proximity of DSBs by an interaction with the histone H2AX. NBN also functions in telomere length maintenance by generating the 3' overhang which serves as a primer for telomerase dependent telomere elongation. NBN is a major player in the control of intra-S-phase checkpoint and there is some evidence that NBN is involved in G1 and G2 checkpoints. The roles of NBS1/MRN encompass DNA damage sensor, signal transducer, and effector, which enable cells to maintain DNA integrity and genomic stability. Forms a complex with RBBP8 to link DNA double-strand break sensing to resection. Enhances AKT1 phosphorylation possibly by association with the mTORC2 complex.|
|Cellular Location||Nucleus. Nucleus, PML body. Chromosome, telomere Note=Localizes to discrete nuclear foci after treatment with genotoxic agents.|
|Tissue Location||Ubiquitous. Expressed at high levels in testis|
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The protein encoded by this gene is a member of the nerve growth factor family. It is induced by cortical neurons, and is necessary for survival of striatal neurons in the brain. Expression of this gene is reduced in both Alzheimer's and Huntington disease patients. This gene may play a role in the regulation of stress response and in the biology of mood disorders. Multiple transcript variants encoding distinct isoforms have been described for this gene. ;
1. Fam Cancer. 2012 Dec;11(4):595-600. 2. Mol Carcinog. 2011 Sep;50(9):689-96.
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