| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | NBN |
| Uniprot No | O60934 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-754aa |
| 氨基酸序列 | MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF LKAVESKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN DTFSDEAVPE SSKISQENEI GKKRELKEDS LWSAKEISNN DKLQDDSEML PKKLLLTEFR SLVIKNSTSR NPSGINDDYG QLKNFKKFKK VTYPGAGKLP HIIGGSDLIA HHARKNTELE EWLRQEMEVQ NQHAKEESLA DDLFRYNPYL KRRR |
| 预测分子量 | kDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300. |
| 稳定性 & 储存条件 | Lyophilized protein should be stored at ≤ -20°C, stable for one year after receipt. Reconstituted protein solution can be stored at 2-8°C for 2-7 days. Aliquots of reconstituted samples are stable at ≤ -20°C for 3 months. |
| 复溶 | Always centrifuge tubes before opening.Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100μg/ml. Dissolve the lyophilized protein in distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. |
以下是关于NBN重组蛋白的3篇参考文献概述，涵盖功能、结构及疾病相关研究：
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1. **文献名称**: *Structural and functional analysis of the human MRE11/NBN/RAD50 complex in DNA repair*
**作者**: Williams RS, et al.
**摘要**: 本研究解析了人源MRE11、NBN(NBS1)和RAD50蛋白形成的复合物结构，揭示了NBN通过C端结构域介导复合物组装，并调控其对DNA双链断裂(DSB)的识别与修复功能。实验表明，NBN重组蛋白缺失会导致同源重组修复缺陷。
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2. **文献名称**: *NBN mutations alter DNA damage signaling pathways in Nijmegen Breakage Syndrome*
**作者**: Carney JP, et al.
**摘要**: 文章分析了NBN基因突变对重组蛋白功能的影响，发现突变的NBN蛋白无法有效激活ATM激酶信号通路，导致细胞周期检查点调控异常。研究通过体外表达重组突变体NBN，验证了其与MRE11/RAD50复合物的结合能力下降。
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3. **文献名称**: *Recombinant NBN protein restores radiation resistance in NBS patient cells*
**作者**: Kobayashi J, et al.
**摘要**: 利用重组表达的野生型NBN蛋白转染至Nijmegen Breakage Syndrome(NBS)患者细胞中，发现其能恢复细胞对电离辐射的抗性，并修复DSB修复缺陷。研究证明NBN重组蛋白在功能上具有治疗NBS相关基因组不稳定性的潜力。
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如需具体文献来源或更多研究，可进一步提供数据库检索关键词(如PubMed ID或DOI)。
**Background of NBN Recombinant Protein**
The NBN (Nibrin) protein, encoded by the *NBN* gene (formerly *NBS1*), is a critical component of the DNA damage response machinery, particularly in the repair of double-strand breaks (DSBs) via homologous recombination (HR). It functions as part of the MRE11-RAD50-NBN (MRN) complex, which senses DNA damage, activates checkpoint signaling, and facilitates resection of DNA ends to enable repair. Mutations in *NBN* are linked to Nijmegen breakage syndrome (NBS), a rare autosomal recessive disorder characterized by chromosomal instability, immunodeficiency, radiation sensitivity, and heightened cancer susceptibility.
Recombinant NBN protein is produced through *in vitro* expression systems (e.g., *E. coli*, mammalian cells) to study its structural and functional roles. Its recombinant form retains the ability to interact with MRE11 and RAD50. restoring MRN complex activity in cellular models. Researchers utilize NBN recombinant proteins to investigate DSB repair mechanisms, dissect molecular pathways in NBS, and explore therapeutic strategies for related genomic disorders. Additionally, it serves as a tool for screening small molecules or gene therapies aimed at correcting MRN dysfunction.
Studies involving NBN recombinant protein have also shed light on its involvement beyond DNA repair, including roles in telomere maintenance, cell cycle regulation, and immune diversification through V(D)J recombination. Its applications extend to cancer research, as MRN complex dysregulation is implicated in tumorigenesis and treatment resistance. By providing a purified, functional protein, recombinant NBN enables mechanistic insights into genome stability and offers potential for translational advancements in precision medicine.
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