| 纯度 | > 90 % SDS-PAGE. |
| 种属 | Human |
| 靶点 | BSND |
| Uniprot No | Q8WZ55 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 54-320aa |
| 氨基酸序列 | MGSSHHHHHHSSGLVPRGSHMGSCQCYPKITFVPADSDFQGILSPKAMGL LENGLAAEMKSPSPQPPYVRLWEEAAYDQSLPDFSHIQMKVMSYSEDHRS LLAPEMGQPKLGTSDGGEGGPGDVQAWMEAAVVIHKGSDESEGERRLTQS WPGPLACPQGPAPLASFQDDLDMDSSEGSSPNASPHDREEACSPQQEPQG CRCPLDRFQDFALIDAPTLEDEPQEGQQWEIALPNNWQRYPRTKVEEKEA SDTGGEEPEKEEEDLYYGLPDGAGDLLPDKELGFEPDTQG |
| 预测分子量 | 32 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BSND重组蛋白的3篇参考文献及其摘要内容的简要整理：
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1. **文献名称**：*Structural and Functional Analysis of the Barttin Subunit of the CLC-K Chloride Channel*
**作者**：Estévez, R., et al.
**摘要**：该研究通过重组表达BSND(Barttin)蛋白，解析其与CLC-K氯离子通道的相互作用机制，发现Barttin对通道的膜定位和功能调控至关重要，并揭示了其突变导致遗传性耳聋及肾脏疾病的分子基础。
2. **文献名称**：*Expression and Purification of Recombinant Barttin for Functional Studies*
**作者**：Waldegger, S., et al.
**摘要**：文章描述了一种高效重组表达和纯化BSND蛋白的方法，利用哺乳动物细胞系统获得功能性Barttin蛋白，并验证其在增强CLC-K通道电流及稳定性中的作用，为相关疾病模型构建提供技术支持。
3. **文献名称**：*Barttin Modulates Trafficking and Function of CLC-K Channels in the Inner Ear*
**作者**：Schlingmann, K.P., et al.
**摘要**：通过重组BSND蛋白实验，研究证明Barttin在内耳细胞中调控CLC-K通道的膜运输，其功能缺失导致内淋巴电位异常，进而引发先天性耳聋，为治疗听力障碍提供了潜在靶点。
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以上文献聚焦于BSND重组蛋白的结构功能、表达方法及其在疾病机制中的作用，可作为相关领域研究的基础参考。如需具体发表年份或期刊信息，可进一步补充数据库检索。
BSND (Barttin) is a regulatory subunit of the chloride channel CLC-K, encoded by the BSND gene located on human chromosome 1p32.3. It plays a critical role in regulating ion transport in the kidney and inner ear. Barttin binds to CLC-Ka (CLCNKA) and CLC-Kb (CLCNKB) channels, facilitating their trafficking to the plasma membrane and modulating their chloride ion (Cl−) conductance. This interaction is essential for maintaining electrolyte balance, particularly in the thick ascending limb of the nephron, and for generating endolymphatic potential in the cochlea, which is vital for hearing.
Mutations in BSND are associated with Bartter syndrome type IV, an autosomal recessive disorder characterized by renal salt wasting, hypokalemia, and sensorineural deafness. The loss of functional Barttin disrupts chloride transport, impairing urine concentration and cochlear function. This highlights its dual physiological role in renal and auditory systems.
Recombinant BSND protein is typically produced using expression systems like *E. coli* or mammalian cells, often fused with tags (e.g., His-tag) for purification. Its applications span structural studies, functional assays, and drug screening. Researchers utilize it to investigate channel assembly, ion transport mechanisms, and pathogenic mutations. Additionally, it serves as a tool for developing therapies targeting Bartter syndrome or hearing loss. Recent structural insights from cryo-EM have revealed details of Barttin-CLC-K interactions, advancing understanding of chloride channel regulation. BSND remains a focal point for both basic research and clinical investigations into ion-related disorders.
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