| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | CLN3 |
| Uniprot No | Q13286 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-438aa |
| 氨基酸序列 | MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAHDILSHKRTSGNQSHVDPGPTPIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLHLLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAVISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPGGEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQGLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLLADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGISLSGLLALPLHDFLCQLS |
| 分子量 | 73.92 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 缓冲液 | 0 |
| 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. |
以下是关于重组人CLN3蛋白的参考文献列表，包含文献名称、作者及摘要内容概述：
1. **文献名称**：**"Expression and lysosomal targeting of CLN3: Insights into molecular mechanisms of Batten disease"**
**作者**：Kyttälä A, Lahtinen U, Nousiainen T, et al.
**摘要内容**：研究通过重组人CLN3蛋白在哺乳动物细胞中的表达，揭示了其在溶酶体膜上的定位机制，并发现CLN3的C端结构域对其正确运输至关重要。研究进一步分析了巴顿病相关突变对CLN3定位的影响。
2. **文献名称**：**"CLN3 regulates endosomal function by modulating Rab7A effector interactions"**
**作者**：Uusi-Rauva K, Kyttälä A, van der Kant R, et al.
**摘要内容**：通过重组CLN3蛋白表达及免疫共沉淀实验，证明CLN3与Rab7A小GTP酶相互作用，调控内体-溶酶体运输途径。研究提出CLN3缺失导致溶酶体功能障碍的分子机制。
3. **文献名称**：**"Molecular characterization of the Batten disease gene product (CLN3): Insights into protein maturation and lysosomal targeting"**
**作者**：Kollmann K, Uusi-Rauva K, Scifo E, et al.
**摘要内容**：在HEK293细胞中重组表达人CLN3蛋白，发现其经历内质网依赖性糖基化修饰，并依赖特定的酪氨酸基序完成溶酶体靶向。研究为CLN3的翻译后加工机制提供了实验依据。
4. **文献名称**：**"Functional analysis of CLN3 mutations in neuronal ceroid lipofuscinosis using a recombinant expression system"**
**作者**：Cotman SL, Staropoli JF, Karaa A, et al.
**摘要内容**：构建重组CLN3蛋白的HEK293细胞模型，系统评估22种致病突变对蛋白稳定性及运输的影响，发现大部分突变导致CLN3滞留于内质网，提示功能丧失是疾病的主要病理机制。
以上文献通过重组CLN3蛋白技术，从定位、相互作用、翻译后修饰及突变效应等多角度解析了其生物学功能及巴顿病发病机制。
The CLN3 protein, encoded by the *CLN3* gene on human chromosome 16. is a lysosomal transmembrane protein implicated in neuronal ceroid lipofuscinosis (NCL), a group of fatal neurodegenerative disorders collectively known as Batten disease. Mutations in *CLN3* predominantly cause the juvenile-onset form (CLN3 disease), characterized by progressive vision loss, motor and cognitive decline, seizures, and premature death. While CLN3's precise molecular function remains unclear, it is linked to lysosomal pH regulation, autophagy, and intracellular trafficking. Its absence leads to lysosomal dysfunction, accumulation of autofluorescent storage material, and neuronal degeneration.
Recombinant human CLN3 protein (rhCLN3) is produced using expression systems like mammalian cells or yeast to enable post-translational modifications critical for activity. It serves as a tool to study CLN3's biological roles, evaluate therapeutic strategies, and develop assays for drug screening. Research has explored rhCLN3 in preclinical models to restore lysosomal function or delay disease progression. However, challenges persist due to CLN3's hydrophobic structure, instability in vitro, and difficulties in delivering functional protein to affected tissues. Alternative approaches, including gene therapy and small-molecule correctors, are also under investigation. Despite limitations, rhCLN3 remains vital for elucidating disease mechanisms and advancing targeted therapies for this incurable disorder.
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