| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | CACNa1F |
| Uniprot No | O60840 |
| 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 | 220 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CACNA1F重组蛋白研究的示例参考文献(内容为假设性示例，建议通过学术数据库核实具体文献)：
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1. **标题**: *Functional characterization of recombinant CACNA1F calcium channels in retinal signaling*
**作者**: McRory JE, et al.
**摘要**: 本研究在HEK293细胞中表达了重组CACNA1F蛋白，通过电生理学分析发现其编码的L型钙通道在视网膜光信号传递中起关键作用，揭示了其独特的电压依赖性和钙离子通透性特征。
2. **标题**: *Pathogenic mutations in CACNA1F disrupt channel gating studied via recombinant protein models*
**作者**: Hemara-Wahanui A, et al.
**摘要**: 通过构建携带先天性眼病相关突变(如X-linked incomplete congenital stationary night blindness)的重组CACNA1F通道，发现突变导致通道失活加速、钙电流减弱，阐明了致病机制。
3. **标题**: *Pharmacological modulation of recombinant CACNA1F channels for therapeutic screening*
**作者**: Hope SJ, et al.
**摘要**: 利用重组CACNA1F蛋白筛选钙通道调节剂，发现特定化合物可恢复突变通道功能，为视网膜退行性疾病的药物开发提供了潜在靶点。
4. **标题**: *Cryo-EM structure of the CACNA1F calcium channel reveals pore architecture*
**作者**: Almanza A, et al.
**摘要**: 通过冷冻电镜解析重组CACNA1F蛋白的高分辨率结构，明确了其α1亚基的跨膜域构象及离子选择性过滤器，为理解门控机制和设计靶向药物奠定基础。
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建议通过PubMed或Google Scholar搜索关键词“CACNA1F recombinant protein”或“CACNA1F expression”获取真实文献。
CACNA1F recombinant protein is derived from the CACNA1F gene, which encodes the α1F subunit of voltage-gated calcium channels (CaV1.4). This L-type calcium channel is predominantly expressed in retinal photoreceptors (rods and cones) and plays a critical role in visual signal transduction. The CaV1.4 channel regulates calcium influx into presynaptic terminals of photoreceptors, modulating neurotransmitter release to downstream bipolar cells, a process essential for light-evoked synaptic transmission and retinal circuit function.
Mutations in CACNA1F are linked to X-linked congenital stationary night blindness type 2 (CSNB2) and other inherited retinal disorders. These mutations often disrupt channel gating, trafficking, or calcium current properties, impairing retinal signaling and causing symptoms like reduced visual acuity, nystagmus, and night blindness. Studying CACNA1F recombinant proteins helps elucidate structure-function relationships, disease mechanisms, and potential therapeutic strategies.
Recombinant CACNA1F proteins are typically produced in heterologous systems (e.g., HEK293 or CHO cells) to enable functional characterization. They retain key domains, including four homologous repeats with voltage-sensing regions, a pore-forming module, and intracellular regulatory domains. Researchers use these proteins to investigate channel kinetics, ligand interactions, and mutation-induced dysfunctions. Additionally, they serve as tools for drug screening, gene therapy validation, and understanding calcium-dependent processes in retinal physiology. Advances in cryo-EM have further enabled high-resolution structural studies, enhancing insights into CaV1.4's role in health and disease.
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