Recombinant Human SMN2 protein

中文名： 运动神经元生存蛋白2(SMN2)重组蛋白
别名： SMN2；SMN；SMNT；SMN2；Survival motor neuron protein

货号: PA1000-8812

Price： ￥询价

20μg 50μg 100μg ＞100μg

数量：

大包装询价

产品详情

纯度	>90%SDS-PAGE.
种属	Human
靶点	SMN2
Uniprot No	Q16637
内毒素	< 0.01EU/μg
表达宿主	E.coli
表达区间	2-294aa
氨基酸序列	AMSSGGSGG GVPEQEDSVL FRRGTGQSDD SDIWDDTALI KAYDKAVASF KHALKNGDIC ETSGKPKTTP KRKPAKKNKS QKKNTAASLQ QWKVGDKCSA IWSEDGCIYP ATIASIDFKR ETCVVVYTGY GNREEQNLSD LLSPICEVAN NIEQNAQENE NESQVSTDES ENSRSPGNKS DNIKPKSAPW NSFLPPPPPM PGPRLGPGKP GLKFNGPPPP PPPPPPHLLS CWLPPFPSGP PIIPPPPPIC PDSLDDADAL GSMLISWYMS GYHTGYYMGF RQNQKEGRCS HSLN
预测分子量	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.

参考文献

以下是关于SMN2重组蛋白及相关研究的3篇参考文献，涵盖剪接调控与治疗应用：

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1. **文献名称**：*A single nucleotide in the SMN2 gene regulates splicing and is responsible for spinal muscular atrophy*

**作者**：Lorson, C.L. 等(1999)

**摘要**：该研究揭示了SMN2基因中外显子7跳跃的关键机制，指出单个核苷酸差异(C→T)导致SMN蛋白截短。通过重组蛋白实验，证明SMN2剪接异常导致功能蛋白不足，为靶向剪接修饰的疗法提供了理论基础。

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2. **文献名称**：*Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model*

**作者**：Hua, Y. 等(2011)

**摘要**：研究利用反义寡核苷酸(ASO)靶向SMN2前体mRNA，促进外显子7保留，显著增加全功能性SMN重组蛋白表达。在小鼠模型中证实，全身性SMN蛋白恢复可延长生存期并改善运动功能。

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3. **文献名称**：*Small molecule modulators of the SMN2 splicing pathway improve survival in SMA mice*

**作者**：Naryshkin, N.A. 等(2014)

**摘要**：报道了一种小分子化合物(后发展为利司扑兰)通过结合SMN2 mRNA促进正确剪接，提升重组SMN蛋白水平。实验显示该疗法显著增加SMA模型小鼠的SMN蛋白表达并改善病理表型。

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**备注**：SMN2重组蛋白研究多聚焦于剪接调控或替代疗法，上述文献涵盖机制探索与药物开发，为SMA治疗奠定基础。如需实验级重组蛋白制备方法，建议补充检索蛋白表达纯化相关研究。

背景信息

Survival Motor Neuron 2 (SMN2) is a paralog gene of SMN1. both encoding the SMN protein critical for motor neuron survival and RNA processing. In humans, SMN1 mutations cause spinal muscular atrophy (SMA), a neurodegenerative disorder. Unlike SMN1. SMN2 contains a C-to-T transition in exon 7. leading to alternative splicing that excludes this exon in ~90% of transcripts. This produces a truncated, unstable SMNΔ7 protein with reduced functionality. However, ~10% of SMN2-derived transcripts retain exon 7. generating functional SMN protein, which partially compensates for SMN1 loss. SMA severity inversely correlates with SMN2 copy number, making SMN2 a key therapeutic target.

Recombinant SMN2 protein strategies aim to boost functional SMN levels. These include splicing modulation therapies (e.g., antisense oligonucleotides like nusinersen) to promote exon 7 inclusion, and small-molecule stabilizers of SMN2 mRNA. Recombinant SMN protein itself has been explored for direct delivery, though challenges like blood-brain barrier penetration and protein stability limit efficacy. Advances in protein engineering, including fusion tags or nanoparticle packaging, seek to enhance delivery to motor neurons.

Research also focuses on recombinant SMN2-derived proteins produced via bacterial or mammalian expression systems. These proteins are studied for their ability to restore SMN-dependent pathways, such as snRNP assembly and axonal transport, in cellular and animal SMA models. Combination therapies pairing SMN2-targeted approaches with neuroprotective agents represent emerging strategies. Despite progress, optimizing dosage, delivery routes, and long-term safety remains critical for clinical translation. SMN2-based recombinant protein therapies underscore the importance of SMN restoration as a central paradigm in SMA treatment.