| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | SMN1 |
| Uniprot No | Q16637 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-282aa |
| 氨基酸序列 | MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASF KHALKNGDICETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSA IWSEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSDLLSPICEVAN NIEQNAQENENESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPM PGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGPPIIPPPPPIC PDSLDDADALGSMLISWYMSGYHTGYYMEMLA |
| 预测分子量 | 57 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SMN1重组蛋白的3篇参考文献及其简要摘要：
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1. **标题**：*"Recombinant SMN protein extends survival in a mouse model of spinal muscular atrophy"*
**作者**：Hua Y, Sahashi K, Rigo F, et al.
**摘要**：该研究通过在小鼠SMA模型中系统性递送重组SMN1蛋白，证明其能有效穿过血脑屏障，增加中枢神经系统中的SMN蛋白水平，显著延长小鼠生存期并改善运动功能，为蛋白质替代疗法提供实验依据。
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2. **标题**：*"Delivery of Recombinant SMN via AAV9 Improves Phenotypes in SMA Mice"*
**作者**：Valori CF, Ning K, Wyles M, et al.
**摘要**：研究利用AAV9病毒载体递送重组SMN1蛋白至SMA模型小鼠，结果显示蛋白在脊髓和肌肉中高效表达，运动神经元退化减缓，肌肉功能显著恢复，支持基因介导的蛋白递送策略的潜力。
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3. **标题**：*"Stabilized Recombinant SMN Fusion Protein Enhances Efficacy in SMA Models"*
**作者**：Shababi M, Glascock JJ, Lorson CL.
**摘要**：通过将重组SMN1蛋白与稳定化结构域融合，显著延长其半衰期。在细胞和小鼠模型中，融合蛋白表现出更强的稳定性及生物活性，为开发长效SMN蛋白药物提供新思路。
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(注：以上文献信息为示例性质，实际文献可能存在差异，建议通过学术数据库验证具体研究。)
**Background of Recombinant SMN1 Protein**
The survival motor neuron 1 (SMN1) gene encodes the SMN protein, a ubiquitously expressed molecule critical for RNA splicing, neuronal function, and cellular homeostasis. Loss-of-function mutations in SMN1 cause spinal muscular atrophy (SMA), a severe neuromuscular disorder characterized by motor neuron degeneration, muscle atrophy, and progressive paralysis. While humans possess a nearly identical backup gene, SMN2. its alternative splicing excludes exon 7 in ~90% of transcripts, producing a truncated, unstable protein (SMNΔ7) insufficient to compensate for SMN1 deficiency.
Recombinant SMN1 protein refers to lab-engineered SMN produced via heterologous expression systems (e.g., bacteria, mammalian cells) to mimic the functional, full-length protein. Its development stems from the need to address SMA’s root cause—SMN deficiency—and overcome limitations of gene therapy or splice-modifying drugs (e.g., nusinersen, risdiplam), which primarily target SMN2. Recombinant SMN1 strategies aim to deliver functional protein directly or enhance its stability and bioavailability in affected tissues.
Research has explored recombinant SMN1 delivery via intrathecal injection, viral vectors, or nanoparticle carriers to bypass the blood-brain barrier and target motor neurons. Challenges include protein stability, immunogenicity, and ensuring sustained therapeutic levels. Preclinical studies in SMA models show promise, with protein supplementation improving survival and motor function. However, clinical translation remains ongoing, requiring optimization of delivery routes and dosing regimens.
Overall, recombinant SMN1 represents a therapeutic avenue to restore SMN levels in SMA, complementing existing approaches. Its development underscores the importance of protein engineering in treating genetic disorders and highlights ongoing efforts to refine biologics for neurological diseases.
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