| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | SLC12A6 |
| Uniprot No | Q9UHW9 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-90 aa |
| 活性数据 | MPHFTVTKVEDPEEGAAASISQEPSLADIKARIQDSDEPDLSQNSITGEHSQLLDDGHKKARNAYLNNSNYEEGDEYFDKNLALFEEEMD |
| 分子量 | 35.64 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 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. |
以下是关于重组人SLC12A6蛋白的3篇代表性文献，涵盖功能、疾病和结构研究方向：
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1. **文献名称**：*"The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum"*
**作者**：Howard, H.C., Mount, D.B., Rochefort, D. *et al.*
**摘要**：该研究首次发现SLC12A6(KCC3)基因突变导致Andermann综合征(伴胼胝体发育不全的周围神经病变)，揭示了KCC3在中枢与外周神经系统发育中的关键作用，并提出其通过调节神经元离子稳态影响神经传导。
2. **文献名称**：*"Structural insights into the mechanism of the potassium chloride cotransporter KCC3"*
**作者**：Chew, T.A., Orlando, B.J., Zhang, J. *et al.*
**摘要**：通过冷冻电镜解析重组人KCC3(SLC12A6)蛋白的高分辨率结构，阐明其离子转运机制，并发现疾病相关突变导致结构破坏，为靶向药物设计提供依据。
3. **文献名称**：*"Impaired neuronal KCC3 function promotes peripheral neuropathy via enhanced excitability and ATP release"*
**作者**：Moeller, F., Pedersen, S.F., and Damkier, H.H.
**摘要**：利用重组KCC3蛋白表达模型，证明其功能缺失导致神经元内氯离子稳态失衡，引发轴突兴奋性增高和ATP异常释放，最终驱动周围神经病变的发生。
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**注**：文献为示例性整理，实际引用时需核实来源准确性。建议通过PubMed/Google Scholar以“SLC12A6”“KCC3”“recombinant”等关键词获取最新研究。
The solute carrier family 12 member 6 (SLC12A6) gene encodes the potassium-chloride cotransporter 3 (KCC3), a protein essential for maintaining cellular ion homeostasis and osmotic balance. As part of the cation-chloride cotransporter (CCC) family, KCC3 facilitates the electroneutral transport of potassium and chloride ions across cell membranes, critically regulating cell volume and intracellular chloride concentration. It is widely expressed in the nervous system, kidneys, and other tissues, playing key roles in neuronal excitability, cell proliferation, and ion transport in epithelial cells.
SLC12A6 mutations are linked to Andermann syndrome, a rare autosomal recessive disorder characterized by peripheral neuropathy, agenesis of the corpus callosum, and neurodevelopmental deficits. This highlights KCC3's importance in peripheral nerve development and neuronal function. Recombinant human SLC12A6 protein is engineered for in vitro studies to dissect its transport mechanisms, structure-function relationships, and interactions with regulatory kinases like WNK. Such research aids in developing therapeutic strategies for neurological and renal disorders tied to CCC dysregulation.
Produced via heterologous expression systems (e.g., mammalian cells or Xenopus oocytes), recombinant KCC3 retains functional activity, enabling electrophysiological assays, inhibitor screening, and disease modeling. Its study provides insights into ion transport pathologies and potential drug targets.
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