Target：Nibrin
Fields：Homologous recombination;Cellular senescence
Gene Name：NBN
Protein Name：Nibrin
Human Gene Id：4683
Human Swiss Prot No：O60934
Mouse Swiss Prot No：Q9R207
Immunogen：The antiserum was produced against synthesized peptide derived from human Nibrin around the phosphorylation site of Ser278. AA range:251-300
Specificity：Phospho-Nibrin (S278) Polyclonal Antibody detects endogenous levels of Nibrin protein only when phosphorylated at S278.
Formulation：Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source：Polyclonal, Rabbit,IgG
Dilution：WB 1:500 - 1:2000. IF 1:200 - 1:1000. ELISA: 1:10000. Not yet tested in other applications.
Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration：1 mg/ml
Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)
Other Name：NBN;NBS;NBS1;P95;Nibrin;Cell cycle regulatory protein p95;Nijmegen breakage syndrome protein 1
Observed Band(KD)：95kD
Background： 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],
Function：disease:Defects in NBN are a cause of genetic susceptibility to breast cancer (BC) [MIM:114480]. BC is an extremely common malignancy, affecting one in eight women during their lifetime. A positive family history has been identified as major contributor to risk of development of the disease, and this link is striking for early-onset breast cancer.,disease:Defects in NBN are the cause of Nijmegen breakage syndrome (NBS) [MIM:251260]. NBS is an autosomal recessive syndrome characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies.,disease:Defects in NBN may be associated with aplastic anemia [MIM:609135]. Aplastic anemia is a disease of bone-marrow failure characterized by peripheral pancytopenia and marrow hypoplasia. Most of the cases of aplastic anemia are idiopa
Subcellular Location：Nucleus . Nucleus, PML body . Chromosome, telomere . Chromosome . Localizes to discrete nuclear foci after treatment with genotoxic agents (PubMed:26438602, PubMed:10783165, PubMed:26215093). Acetylation of 'Lys-5' of histone H2AX (H2AXK5ac) promotes NBN/NBS1 assembly at the sites of DNA damage (PubMed:26438602). .
Expression：Ubiquitous (PubMed:9590180). Expressed at high levels in testis (PubMed:9590180).
