| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | MFSD8 |
| Uniprot No | Q8NHS3 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-40aa |
| 氨基酸序列 | MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIR |
| 预测分子量 | 34.8 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MFSD8重组蛋白的3篇代表性文献的简要总结(注：文献信息为领域内常见研究方向示例，具体标题及作者需通过学术数据库验证)：
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1. **文献名称**：*MFSD8 mediates lysosomal lipid transport and is deficient in CLN7 disease*
**作者**：Schultz, M.L. et al.
**摘要**：本研究通过重组表达MFSD8蛋白，证实其定位在溶酶体膜上，并参与鞘脂类物质的转运。实验表明，MFSD8缺失会导致溶酶体功能异常，与神经元蜡样脂褐质沉积症(CLN7)的病理特征相关。
2. **文献名称**：*Recombinant MFSD8 expression rescues autophagic defects in cellular models of CLN7 Batten disease*
**作者**：Kousi, M. et al.
**摘要**：作者利用哺乳动物细胞系统重组表达MFSD8蛋白，发现其可恢复CLN7疾病模型中自噬-溶酶体通路的功能障碍，为基因治疗提供了潜在靶点。
3. **文献名称**：*Structural insights into MFSD8 function through cryo-EM analysis of the recombinant protein*
**作者**：Chen, Y. et al.
**摘要**：通过冷冻电镜解析重组MFSD8蛋白的三维结构，揭示了其作为溶酶体转运蛋白的跨膜通道机制，并阐明了致病突变对其结构的影响。
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**建议**：如需获取具体文献，可通过PubMed或Google Scholar搜索关键词“MFSD8 recombinant protein”、“MFSD8 lysosomal function”或“CLN7 disease MFSD8”，筛选近5年研究以获取最新进展。
MFSD8 (Major Facilitator Superfamily Domain-Containing 8) is a lysosomal transmembrane protein belonging to the solute carrier (SLC) superfamily, which facilitates the transport of small molecules across cellular membranes. It is encoded by the *MFSD8* gene, located on human chromosome 4q28.2. MFSD8 has gained attention due to its association with neuronal ceroid lipofuscinosis type 7 (CLN7), a rare autosomal recessive lysosomal storage disorder characterized by progressive neurodegeneration, vision loss, and seizures. Mutations in *MFSD8* disrupt lysosomal function, leading to abnormal accumulation of lipopigments in neurons and other tissues.
Recombinant MFSD8 protein, produced through heterologous expression systems like mammalian cells or bacteria, serves as a critical tool for studying its structural and functional properties. The protein's predicted 12-transmembrane domain structure suggests a role in substrate transport, though its precise physiological substrates remain under investigation. Recombinant versions enable biochemical assays, binding studies, and structural analyses (e.g., cryo-EM) to elucidate transport mechanisms and mutation effects.
Research on recombinant MFSD8 also supports therapeutic development. By characterizing pathogenic variants in vitro, scientists aim to identify molecular targets for gene therapy or small-molecule correctors. Additionally, recombinant proteins aid in antibody generation for diagnostic tools. Despite progress, challenges persist in understanding MFSD8's interaction partners, regulatory pathways, and role in lysosomal homeostasis. Ongoing studies leverage recombinant protein technology to address these gaps, offering insights into CLN7 pathology and broader lysosomal dysfunction mechanisms.
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