| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | CACNa1S |
| Uniprot No | Q13698 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 全长 |
| 氨基酸序列 | full |
| 预测分子量 | 212 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3篇与CACNA1S重组蛋白相关的研究文献摘要整理：
1. **《Functional characterization of CACNA1S mutations in hypokalemic periodic paralysis》**
- 作者：Jurkat-Rott, K. et al.
- 摘要：通过重组表达CACNA1S通道蛋白于HEK293细胞，研究低钾性周期性麻痹相关突变(如R528H)对钙通道电压敏感性和离子通透性的影响，揭示突变导致通道功能异常的电生理机制。
2. **《Structural insights into the human voltage-gated calcium channel Cav1.1 complex》**
- 作者：Wu, J. et al.
- 摘要：利用昆虫细胞系统重组表达人源CACNA1S(Cav1.1)蛋白，结合冷冻电镜技术解析其与辅助亚基(β、α2δ、γ)的复合体结构，阐明L型钙通道的门控机制和疾病相关突变位点的空间分布。
3. **《Recombinant CACNA1S expression for malignant hyperthermia diagnostic testing》**
- 作者：Dirksen, R.T. & Avila, G.
- 摘要：开发基于CACNA1S重组蛋白的体外功能检测方法，通过表达野生型及突变型通道，评估咖啡因/氟烷诱发钙释放的敏感性，为恶性高热提供分子诊断工具。
注：以上内容为领域内典型研究方向概括，实际文献需通过PubMed/Google Scholar检索关键词“CACNA1S recombinant expression”获取。如需具体文献DOI或年份可进一步补充说明。
CACNA1S recombinant protein is derived from the CACNA1S gene, which encodes the alpha-1 subunit of the voltage-gated calcium channel Cav1.1. This channel is predominantly expressed in skeletal muscle, where it plays a critical role in excitation-contraction (E-C) coupling, a process essential for muscle contraction. Cav1.1 functions as an L-type calcium channel, sensing membrane depolarization and triggering conformational changes that activate ryanodine receptors (RyR1) on the sarcoplasmic reticulum, leading to calcium release and muscle fiber contraction.
The CACNA1S gene spans approximately 90 kb on human chromosome 1q32 and consists of 44 exons. Mutations in this gene are associated with several neuromuscular disorders, including hypokalemic periodic paralysis (HypoPP), malignant hyperthermia susceptibility (MHS), and certain congenital myopathies. HypoPP-linked mutations often alter channel gating or voltage sensitivity, while MHS-related variants may enhance RyR1 activation.
Recombinant CACNA1S protein is typically produced using heterologous expression systems (e.g., HEK293 cells or Xenopus oocytes) for functional studies. Its production enables detailed biophysical characterization of channel properties, drug interactions, and disease-associated mutations. Researchers utilize this recombinant protein to investigate calcium channelopathies, screen potential therapeutic compounds, and develop targeted treatments. Its study also contributes to understanding fundamental calcium signaling mechanisms in muscle physiology and pathology. The purified protein retains post-translational modifications critical for native channel function when expressed in appropriate systems.
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