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Recombinant Human Nibrin (NBN)

ACP21094

Number
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High Purity LevelsPrecision and ReliabilityCustomization Options

Specifications


Cat.No ACP21094 Target NameNBN
FormLyophilized powderExpression SystemCustom Production. Please inquire and provide the desire expression system.
Expression Range1-754Protein LengthFull length protein
Purity>85% (SDS-PAGE)Storage Buffer5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0.

Immunogen Information


Target SpeciesHumanUniprot IDO60934
Background Information
  • Uniprot Id

    O60934

  • Target Species

    Human

  • Target Name

    NBN

  • Target Full Name

    Nibrin

  • Target 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 MRE11. 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.

  • Target Involvement

    Nijmegen breakage syndrome (NBS); Breast cancer (BC); Aplastic anemia (AA)

  • Target Subcellular Location

    Nucleus. Nucleus, PML body. Chromosome, telomere. Chromosome.

  • Target Tissue Specificity

    Ubiquitous. Expressed at high levels in testis.

  • Target Synonyms

    AT V1; AT V2; ATV; Cell cycle regulatory protein p95; FLJ10155; MGC87362; Nbn; NBN_HUMAN; NBS 1; NBS; NBS1; Nibrin; Nijmegen breakage syndrome 1 (nibrin); Nijmegen breakage syndrome; Nijmegen breakage syndrome protein 1; p95; p95 protein of the MRE11/RAD50 complex

  • Target 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.

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