| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | SCN1A |
| Uniprot No | P35498 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-128aa |
| 氨基酸序列 | MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKNLPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKIAIKILVHS |
| 预测分子量 | 18.5 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SCN1A重组蛋白的3篇代表性文献(注：文献信息为示例性总结，非真实存在，实际引用需核实)：
1. **文献名称**：*Structural basis of human Nav1.1 voltage-gated sodium channel in complex with β1 subunit*
**作者**：Jiang, D. et al.
**摘要**：通过冷冻电镜技术解析了人源SCN1A重组蛋白(Nav1.1)与辅助亚基β1的复合体结构，揭示了其电压感知和门控机制，为癫痫相关突变的功能研究提供结构基础。
2. **文献名称**：*Functional characterization of SCN1A epilepsy mutations using recombinant channels*
**作者**：Catterall, W.A. & Yu, F.H.
**摘要**：利用HEK293细胞表达SCN1A重组钠通道，结合电生理分析，发现Dravet综合征相关突变导致通道功能丧失，阐明了病理机制。
3. **文献名称**：*High-throughput screening of SCN1A-targeted therapeutics using a recombinant neuronal sodium channel platform*
**作者**：Escayg, A. et al.
**摘要**：开发基于SCN1A重组蛋白的体外药物筛选模型，验证了多种化合物对Nav1.1通道活性的调节作用，为抗癫痫药物开发提供新策略。
如需真实文献，建议检索PubMed或Google Scholar，关键词：*SCN1A recombinant protein, Nav1.1 expression, sodium channel functional analysis*。
The SCN1A gene encodes the α1 subunit of voltage-gated sodium channel Nav1.1. a critical transmembrane protein responsible for initiating and propagating action potentials in neurons. As the largest pore-forming component of sodium channels, Nav1.1 regulates neuronal excitability, particularly in GABAergic inhibitory interneurons. Pathogenic SCN1A mutations are strongly associated with seizure disorders, including Dravet syndrome (a severe childhood epilepsy), genetic epilepsy with febrile seizures plus (GEFS+), and other developmental encephalopathies. Over 1.500 SCN1A variants have been identified, mostly causing loss-of-function through haploinsufficiency or impaired channel gating.
SCN1A recombinant proteins are engineered versions of this channel subunit produced in heterologous expression systems (e.g., mammalian cells, Xenopus oocytes, or bacterial systems) for functional studies. These recombinant proteins enable precise investigation of mutation-specific channelopathies, drug interactions, and structure-function relationships. Production typically involves cloning the human SCN1A cDNA into expression vectors, often co-expressed with auxiliary β subunits to recapitulate native channel properties. Challenges include achieving proper protein folding, post-translational modifications, and membrane localization given the protein's large size (>2.000 amino acids) and complex topology.
Research applications include electrophysiological characterization (patch clamp studies), high-throughput drug screening for seizure therapeutics, and structural biology approaches like cryo-EM to resolve channel architecture. Recombinant SCN1A proteins also facilitate antibody development for diagnostic assays and serve as antigenic tools in autoimmune epilepsy research. Recent advances employ induced pluripotent stem cell (iPSC)-derived neurons expressing recombinant SCN1A variants to model patient-specific pathophysiology. These engineered proteins remain essential for developing precision therapies targeting sodium channel dysfunction in epilepsy and related neurological disorders.
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