INFLAMMATION
Gene
NBN
Uniprot
O60934
Protein
Nibrin
See alternative names Nijmegen breakage syndrome protein 1,
Cell cycle regulatory protein p95
Uniprot Function Description
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.
Sample type
Human EDTA plasma and serum are the recommended sample types. Human citrate plasma and heparin plasma are also accepted. For other samples types e.g cerebrospinal fluid, (CSF), tissue or cell lysates please we recommend Olink Target 96 panels. Please note that protein expression levels are expected to vary in different sample types and certain assays may be affected by interfering substances such as hemolysate.
Precision
Precision (repeatability) is calculated from linearized NPX values over LOD.
Dilution factor
For optimal assay readout, Olink Explore is run using different dilutions of the original samples (undiluted, 1:10, 1:100 or 1:1000). The dilution factor for this assay is noted below and should be taken into account when estimating the appropriate addressable biological concentration of the protein based on the in vitro validation data.
Sample distribution plot
The plot below shows the levels of protein measured in a number of commercial plasma samples. Healthy subjects are shown in blue and samples obtained from patients with a range of diseases are shown in red. The latter include inflammatory, cardiovascular, autoimmune & neurological diseases, as well as cancer. The data is shown to give a general idea of the sort of data range to expect, but cannot cover all potential levels that may be seen in clinical samples.