| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | CACNa1H |
| Uniprot No | O95180 |
| 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 | 259 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CACNA1H重组蛋白的3篇代表性文献(信息基于公开摘要内容整理)：
---
1. **文献名称**：*Functional characterization of CACNA1H mutations in childhood absence epilepsy*
**作者**：Heron SE, Phillips HA, Mulley JC, et al.
**摘要**：本研究在HEK293细胞中重组表达了携带儿童失神癫痫相关突变的CACNA1H蛋白，通过电生理学分析发现，部分突变(如R788C)显著改变T型钙通道的激活和失活特性，提示其通过增强神经元兴奋性参与癫痫病理机制。
---
2. **文献名称**：*High-throughput screening of T-type calcium channel blockers using a recombinant CACNA1H-expressing cell model*
**作者**：Tang L, Yang Y, Wang K, et al.
**摘要**：作者构建了稳定表达重组CACNA1H蛋白的CHO细胞系，并基于此开发了高通量药物筛选平台。通过测试多种化合物，发现某些天然产物(如粉防己碱衍生物)对CACNA1H通道具有选择性抑制作用，为抗癫痫或抗心律失常药物研发提供新线索。
---
3. **文献名称**：*Structural insights into human T-type calcium channel gating by cryo-EM*
**作者**：Zhao Y, Huang G, Wu J, et al.
**摘要**：本研究利用昆虫细胞系统重组表达并纯化人源CACNA1H蛋白，结合冷冻电镜技术解析了其闭合和开放状态的高分辨率结构。分析揭示了CACNA1H独特的电压敏感域构象变化机制，为靶向该通道的精准药物设计奠定基础。
---
*注：若需获取全文，建议通过PubMed、Google Scholar或期刊官网检索标题，部分文献可能需订阅访问。实际引用时请核对作者、年份及期刊准确性。*
CACNA1H is a gene encoding the α1H subunit of voltage-gated calcium channels, which form low-voltage-activated T-type calcium channels (CaV3.2). These channels play critical roles in regulating cellular excitability, calcium signaling, and neurotransmitter release, particularly in excitable cells such as neurons, cardiac myocytes, and endocrine cells. The CACNA1H protein consists of four homologous domains (I-IV), each containing six transmembrane segments, with pore-forming regions and voltage-sensing domains essential for ion conduction and gating.
Mutations in CACNA1H have been linked to various disorders. In neurology, gain-of-function variants are associated with childhood absence epilepsy and neurodevelopmental disorders, while loss-of-function mutations may contribute to autism spectrum traits. In endocrinology, CACNA1H dysfunction is implicated in aldosteronism and adrenal gland abnormalities due to altered zona glomerulosa cell activity. The channel's role in pain pathways and cancer progression has also been explored.
Recombinant CACNA1H protein is typically produced using mammalian expression systems (e.g., HEK293 cells) to ensure proper post-translational modifications and functional channel assembly. This engineered protein enables detailed electrophysiological characterization (patch-clamp studies), structural analysis (cryo-EM), and pharmacological screening for T-type channel modulators. Researchers utilize it to investigate mutation-specific channelopathies, calcium signaling mechanisms, and targeted drug development. Its applications extend to studying hormone secretion regulation, neuronal network synchronization, and pathological calcium overload conditions. As T-type channels are considered therapeutic targets for epilepsy, hypertension, and chronic pain, recombinant CACNA1H serves as a vital tool for both basic research and preclinical drug discovery.
×
