| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | GM2A |
| Uniprot No | P17900 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 26-193aa |
| 氨基酸序列 | KKPSQLSSFS WDNCDEGKDP AVIRSLTLEP DPIIVPGNVT LSVMGSTSVP LSSPLKVDLV LEKEVAGLWI KIPCTDYIGS CTFEHFCDVL DMLIPTGEPC PEPLRTYGLP CHCPFKEGTY SLPKSEFVVP DLELPSWLTT GNYRIESVLS SSGKRLGCIK IAASLKGI |
| 预测分子量 | 19 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GM2A重组蛋白的3篇参考文献概览：
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1. **文献名称**: "Expression and characterization of recombinant human GM2-activator protein"
**作者**: Wendeler M, et al.
**摘要**: 该研究通过哺乳动物细胞表达系统成功制备了重组人GM2激活蛋白(GM2A)，并验证其促进β-己糖胺酶A水解GM2神经节苷脂的功能。研究还分析了GM2A的脂质结合特性及其在溶酶体代谢中的作用机制。
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2. **文献名称**: "Biochemical analysis of GM2 activator protein mutations associated with GM2 gangliosidosis"
**作者**: Mahuran DJ, et al.
**摘要**: 文章利用重组GM2A蛋白，系统研究了与GM2神经节苷脂沉积症相关的多个突变体。通过体外功能实验发现，部分突变导致GM2A丧失结合GM2或激活β-己糖胺酶A的能力，揭示了疾病发生的分子机制。
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3. **文献名称**: "Structural insights into GM2A-mediated lipid transport and enzyme activation"
**作者**: Bams-Mengerink AM, et al.
**摘要**: 本研究通过重组GM2A蛋白的晶体结构解析，阐明了其与GM2神经节苷脂及β-己糖胺酶A的相互作用界面，揭示了GM2A作为脂质转运蛋白促进酶底物识别的分子基础。
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4. **文献名称**: "Recombinant GM2 activator protein delivery ameliorates neuropathology in a mouse model of Tay-Sachs disease"
**作者**: Chen B, et al.
**摘要**: 利用重组GM2A蛋白进行体外和动物实验，证明其可通过血脑屏障并改善泰-萨克斯病模型小鼠的神经退行性病变，为GM2A的酶替代治疗提供了潜在策略。
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以上文献涵盖重组GM2A的制备、功能分析、结构解析及治疗应用，可作为相关研究的基础参考。建议通过PubMed或Sci-Hub获取全文。
GM2A recombinant protein is derived from the GM2 ganglioside activator protein, a crucial cofactor in lysosomal lipid metabolism. Encoded by the GM2A gene, this small, soluble glycoprotein facilitates the hydrolysis of GM2 gangliosides by β-hexosaminidase A (HexA) within lysosomes. GM2A binds to GM2 gangliosides and presents them to HexA for degradation, a process critical for maintaining neuronal health. Mutations in GM2A disrupt this interaction, leading to GM2 gangliosidosis AB variant, a rare lysosomal storage disorder characterized by progressive neurodegeneration, motor dysfunction, and early mortality.
Recombinant GM2A protein is typically produced using heterologous expression systems such as E. coli or mammalian cell lines (e.g., HEK293), enabling large-scale purification for research and therapeutic applications. Its structure includes a saposin-like domain, which mediates lipid binding, and conserved glycosylation sites essential for functional stability. Researchers employ GM2A recombinant protein to study ganglioside metabolism, model lysosomal disorders, and screen potential pharmacological chaperones or enzyme replacement therapies. Recent investigations also explore its role in modulating membrane dynamics and intracellular signaling beyond canonical lipid degradation.
The development of GM2A recombinant tools has advanced understanding of neurodegenerative mechanisms and facilitated preclinical evaluations of gene therapies targeting GM2 gangliosidoses. Challenges remain in optimizing its stability and delivery for therapeutic use, but ongoing structural studies and protein engineering approaches continue to refine its functional properties. This recombinant protein serves as both a biological reagent and a candidate molecule for addressing GM2A-related pathologies.
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