| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | RS1 |
| Uniprot No | O15537 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 24-224aa |
| 氨基酸序列 | STEDEGEDPWYQKACKCDCQGGPNALWSAGATSLDCIPECPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANKARLNSQGFGCAWLSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDERLNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELLECVSKCA |
| 预测分子量 | 27.0 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RS1重组蛋白的3篇参考文献及其摘要内容概括：
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1. **文献名称**：*Production of Recombinant Retinoschisin in Mammalian Cells and Its Role in Cell Adhesion*
**作者**：Wu WW, Molday RS
**摘要**：该研究在哺乳动物细胞中成功表达了重组RS1蛋白，并证明其通过结合细胞表面受体(如Na/K ATP酶)参与视网膜细胞的黏附和结构维持，为理解X连锁视网膜劈裂症的病理机制提供了依据。
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2. **文献名称**：*Purification and Functional Analysis of Recombinant RS1 Protein Expressed in Escherichia coli*
**作者**：Vijayasarathy C et al.
**摘要**：研究利用大肠杆菌表达系统制备了重组RS1蛋白，通过体外实验发现其能够形成多聚体结构，并揭示了其在维持视网膜层间结构完整性的关键作用，为疾病治疗提供了潜在的蛋白质替代策略。
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3. **文献名称**：*Gene Therapy with Recombinant RS1 Rescues Retinal Degeneration in a Mouse Model*
**作者**：Zeng Y et al.
**摘要**：通过腺相关病毒(AAV)载体递送重组RS1基因至RS1缺陷小鼠视网膜，成功恢复了视网膜结构的正常形态并改善了视觉功能，为X连锁视网膜劈裂症的基因治疗提供了临床前证据。
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以上文献涵盖了RS1重组蛋白的表达体系、功能研究及治疗应用方向。如需具体文献链接或补充更多内容，请进一步说明。
**Background of Recombinant RS1 Protein**
Recombinant RS1 protein is derived from the *RS1* gene, which encodes retinoschisin, a critical protein involved in maintaining retinal structure and function. Retinoschisin is primarily expressed in photoreceptors and bipolar cells of the retina, where it facilitates cell-cell adhesion and stabilizes synaptic layers. Structurally, it contains a conserved discoidin domain, enabling interactions with cell surfaces and extracellular matrices, and forms disulfide-linked octamers essential for its functional activity.
Mutations in the *RS1* gene cause X-linked juvenile retinoschisis (XLRS), a hereditary retinal disorder characterized by intraretinal splitting, impaired vision, and progressive degeneration. The absence or dysfunction of retinoschisin disrupts retinal integrity, leading to clinical manifestations such as cystic macular lesions and reduced electroretinogram (ERG) responses.
Recombinant RS1 protein is produced via biotechnological platforms, often using mammalian expression systems (e.g., HEK293 or CHO cells) to ensure proper post-translational modifications and oligomerization. Its development aims to address XLRS through therapeutic strategies, including protein replacement therapy or gene therapy. Preclinical studies in animal models (e.g., *Rs1*-knockout mice) have demonstrated its potential to restore retinal structure and function by compensating for deficient retinoschisin.
Research also explores its utility in understanding disease mechanisms, drug screening, and optimizing delivery methods (e.g., intravitreal injection or viral vectors). Challenges remain in ensuring long-term efficacy, stability, and penetration of the protein across retinal barriers. Nonetheless, recombinant RS1 represents a promising avenue for treating XLRS and elucidating pathways in retinal biology.
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