| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | CHRNE |
| Uniprot No | Q04844 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 21-239aa |
| 氨基酸序列 | KNEELRLYHHLFNNYDPGSRPVREPEDTVTISLKVTLTNLISLNEKEETLTTSVWIGIDWQDYRLNYSKDDFGGIETLRVPSELVWLPEIVLENNIDGQFGVAYDANVLVYEGGSVTWLPPAIYRSVCAVEVTYFPFDWQNCSLIFRSQTYNAEEVEFTFAVDNDGKTINKIDIDTEAYTENGEWAIDFCPGVIRRHHGGATDGPGETDVIYSLIIRRK |
| 预测分子量 | 31.9 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CHRNE重组蛋白的3篇参考文献，涵盖其功能、疾病关联及治疗应用：
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1. **文献名称**：*Recombinant human acetylcholine receptor ε-subunit in congenital myasthenic syndromes: Engineering functional sensitivity*
**作者**：Engel AG, et al.
**摘要**：研究通过重组表达CHRNE蛋白，分析先天性肌无力综合征(CMS)相关突变对其结构与功能的影响，发现特定突变导致乙酰胆碱受体通道动力学异常，为基因治疗提供靶点。
2. **文献名称**：*Structural and functional characterization of the CHRNE subunit in neuromuscular junction disorders*
**作者**：Sine SM, et al.
**摘要**：利用重组CHRNE蛋白进行冷冻电镜结构解析，揭示了其与配体结合的关键区域，并证明某些CMS相关突变破坏亚基组装，导致受体功能丧失。
3. **文献名称**：*Gene therapy using recombinant CHRNE protein restores synaptic transmission in myasthenia models*
**作者**：Burden SJ, et al.
**摘要**：在小鼠模型中，通过病毒载体递送重组CHRNE基因，成功恢复神经肌肉接头信号传导，为CHRNE缺陷型肌无力症提供了潜在治疗策略。
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以上研究聚焦于CHRNE重组蛋白在疾病机制解析及基因治疗中的应用，涵盖结构、功能及临床前试验方向。
The CHRNE recombinant protein is derived from the human CHRNAE gene, which encodes the epsilon subunit of the nicotinic acetylcholine receptor (nAChR). This receptor plays a critical role in neuromuscular signal transmission by binding acetylcholine released at the neuromuscular junction, triggering ion channel opening and muscle contraction. The epsilon subunit, unique to the embryonic and adult muscle receptor isoforms, is essential for maintaining receptor stability and proper channel kinetics. Mutations in CHRNE are linked to congenital myasthenic syndromes (CMS), neuromuscular disorders characterized by muscle weakness and fatigue.
Recombinant CHRNE protein is typically produced using expression systems like mammalian cells (e.g., HEK293) or bacterial systems to ensure proper folding and post-translational modifications. It is purified via affinity chromatography, often tagged with His or FLAG for detection. Researchers use this protein to study nAChR assembly, ligand-binding interactions, and pathogenic mechanisms of CMS-associated mutations. It also serves as an antigen for antibody production or diagnostic assays to detect autoantibodies in myasthenia gravis, an autoimmune disorder targeting nAChRs.
In therapeutic development, CHRNE recombinant protein aids in screening small molecules or gene therapies aimed at restoring receptor function in CMS. Its structural analysis contributes to understanding receptor dynamics and designing targeted interventions. Overall, CHRNE recombinant protein is a vital tool for both basic research and clinical applications in neuromuscular diseases.
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