| 纯度 | >95%SDS-PAGE. |
| 种属 | Human |
| 靶点 | SPG21 |
| Uniprot No | Q9NZD8 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-308aa |
| 氨基酸序列 | MGSSHHHHHH SSGLVPRGSH MGEIKVSPDY NWFRGTVPLK KIIVDDDDSK IWSLYDAGPR SIRCPLIFLP PVSGTADVFF RQILALTGWG YRVIALQYPV YWDHLEFCDG FRKLLDHLQL DKVHLFGASL GGFLAQKFAE YTHKSPRVHS LILCNSFSDT SIFNQTWTAN SFWLMPAFML KKIVLGNFSS GPVDPMMADA IDFMVDRLES LGQSELASRL TLNCQNSYVE PHKIRDIPVT IMDVFDQSAL STEAKEEMYK LYPNARRAHL KTGGNFPYLC RSAEVNLYVQ IHLLQFHGTK YAAIDPSMVS AEELEVQKGS LGISQEEQ |
| 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. |
以下是关于SPG21重组蛋白的3篇参考文献的简要总结：
1. **文献名称**: *Maspardin is mutated in mast syndrome, a complex hereditary spastic paraplegia disorder*
**作者**: Simpson MA et al.
**摘要**: 该研究首次鉴定了SPG21基因(编码maspardin蛋白)突变与遗传性痉挛性截瘫(HSP)亚型MAST综合征的关联，并推测maspardin可能通过参与细胞内蛋白运输发挥作用。
2. **文献名称**: *Crystal structure of maspardin reveals key residues for its interaction with neuroserpin*
**作者**: Wang Y et al.
**摘要**: 报道了通过重组表达纯化获得人源maspardin蛋白的晶体结构，揭示了其与神经丝氨酸蛋白酶抑制剂(neuroserpin)相互作用的关键结构域，为SPG21相关疾病的分子机制提供结构基础。
3. **文献名称**: *Functional characterization of SPG21/maspardin mutations in cellular models*
**作者**: Patel H et al.
**摘要**: 构建了重组野生型和突变型maspardin蛋白的细胞表达体系，发现致病突变导致蛋白错误定位和内质网滞留，提示功能丧失是SPG21相关神经退行性变的核心机制。
注：以上文献信息为示例性内容，实际文献需通过PubMed或Web of Science检索确认。建议使用关键词“SPG21”、“maspardin”、“recombinant expression”进行深入查阅。
**Background on SPG21 Recombinant Protein**
SPG21 recombinant protein is a laboratory-engineered version of the human SPG21 (spastic paraplegia 21) gene product, also known as maspardin. The SPG21 gene encodes a 337-amino acid protein predominantly expressed in neurons, particularly in regions of the brain such as the cortex, hippocampus, and cerebellum. Maspardin is implicated in cellular processes involving membrane trafficking and protein sorting, though its precise molecular mechanisms remain under investigation.
Mutations in the SPG21 gene are linked to autosomal recessive hereditary spastic paraplegia (HSP), specifically the SPG21-associated subtype, also termed Mast syndrome. This neurodegenerative disorder is characterized by progressive lower-limb spasticity, weakness, and cognitive decline. The most common pathogenic mutation is a 1-bp deletion (c.304delC), leading to a truncated, nonfunctional protein. Loss of functional maspardin disrupts endosomal-lysosomal pathways, contributing to axonal degeneration in corticospinal tract neurons.
Recombinant SPG21 protein is synthesized using expression systems (e.g., bacterial, mammalian, or insect cells) to produce high-purity, biologically active maspardin for research applications. It serves as a critical tool for studying HSP pathophysiology, protein-protein interactions, and intracellular trafficking mechanisms. Additionally, it aids in developing therapeutic strategies, such as gene therapy or small-molecule interventions, to restore maspardin function or mitigate its loss. Researchers also utilize SPG21 recombinant protein in immunoassays, structural studies, and screening for biomarkers associated with HSP progression.
Overall, SPG21 recombinant protein bridges gaps in understanding HSP etiology and advancing targeted treatments for this debilitating disorder.
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