| 纯度 | >95%SDS-PAGE. |
| 种属 | Human |
| 靶点 | POMGNT1 |
| Uniprot No | Q8WZA1 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 59-660aa |
| 氨基酸序列 | MDDWKPSPLIKPFGARKKRSWYLTWKYKLTNQRALRRFCQTGAVLFLLVT VIVNIKLILDTRRAISEANEDPEPEQDYDEALGRLEPPRRRGSGPRRVLD VEVYSSRSKVYVAVDGTTVLEDEAREQGRGIHVIVLNQATGHVMAKRVFD TYSPHEDEAMVLFLNMVAPGRVLICTVKDEGSFHLKDTAKALLRSLGSQA GPALGWRDTWAFVGRKGGPVFGEKHSKSPALSSWGDPVLLKTDVPLSSAE EAECHWADTELNRRRRRFCSKVEGYGSVCSCKDPTPIEFSPDPLPDNKVL NVPVAVIAGNRPNYLYRMLRSLLSAQGVSPQMITVFIDGYYEEPMDVVAL FGLRGIQHTPISIKNARVSQHYKASLTATFNLFPEAKFAVVLEEDLDIAV DFFSFLSQSIHLLEEDDSLYCISAWNDQGYEHTAEDPALLYRVETMPGLG WVLRRSLYKEELEPKWPTPEKLWDWDMWMRMPEQRRGRECIIPDVSRSYH FGIVGLNMNGYFHEAYFKKHKFNTVPGVQLRNVDSLKKEAYEVEVHRLLS EAEVLDHSKNPCEDSFLPDTEGHTYVAFIRMEKDDDFTTWTQLAKCLHIW DLDVRGNHRGLWRLFRKKNHFLMVGVPASPYSVKKPPSVTPIFLEPPPKE EGAPGAPEQT |
| 预测分子量 | 75 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POMGNT1重组蛋白的3篇参考文献及其摘要概括(文献为合理虚构示例，实际引用需核实)：
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1. **文献名称**: *"Recombinant Human POMGNT1 Expression in Insect Cells and Functional Characterization"*
**作者**: Tanaka K. et al.
**摘要**: 本研究利用杆状病毒-昆虫细胞系统成功表达并纯化了重组人源POMGNT1蛋白。通过体外酶活实验证实其能够催化α-dystroglycan的O-甘露糖糖基化修饰，为研究POMGNT1缺失导致的肌营养不良症提供了功能性蛋白工具。
2. **文献名称**: *"Crystallographic Analysis of POMGNT1 Reveals Substrate Binding Mechanism"*
**作者**: Müller R. et al.
**摘要**: 报道了重组POMGNT1蛋白的晶体结构解析(分辨率2.8 Å)，发现其活性位点关键氨基酸残基与底物UDP-GlcNAc的特异性结合模式，揭示了突变导致酶活丧失的结构基础，为药物靶点设计提供依据。
3. **文献名称**: *"High-Yield Production of Recombinant POMGNT1 in E. coli for Therapeutic Antibody Screening"*
**作者**: Chen L. et al.
**摘要**: 开发了一种基于大肠杆菌的重组POMGNT1高效可溶性表达系统，优化后的蛋白产量达20 mg/L，并验证其可用于筛选恢复α-dystroglycan糖基化的治疗性抗体，推动相关罕见病治疗研究。
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如需真实文献，建议在PubMed或Web of Science中检索关键词“POMGNT1 recombinant protein”或结合具体研究领域筛选。
The POMGNT1 recombinant protein is derived from the human POMGNT1 gene, which encodes the enzyme protein O-linked mannose N-acetylglucosaminyltransferase 1. This enzyme plays a critical role in post-translational glycosylation, specifically catalyzing the transfer of N-acetylglucosamine (GlcNAc) to O-mannosyl glycans on α-dystroglycan (α-DG), a key component of the dystrophin-glycoprotein complex. Proper glycosylation of α-DG is essential for its function in stabilizing muscle cell membranes and mediating interactions with extracellular matrix proteins, such as laminin. Mutations in POMGNT1 disrupt this process, leading to reduced α-DG functionality and causing a subset of congenital muscular dystrophies (CMDs) known as dystroglycanopathies. These include severe disorders like Muscle-Eye-Brain disease (MEB) and Walker-Warburg syndrome (WWS), characterized by muscle weakness, brain abnormalities, and ocular defects.
Recombinant POMGNT1 protein is typically produced using heterologous expression systems (e.g., mammalian or insect cells) to ensure proper folding and enzymatic activity. It serves as a vital tool for studying glycosylation mechanisms, disease pathogenesis, and potential therapeutic strategies. Researchers use this protein to restore α-DG glycosylation in cellular models, screen small-molecule inhibitors or enhancers, and develop gene or enzyme replacement therapies. Additionally, it aids in diagnostic assays to evaluate POMGNT1 activity in patient samples. Its recombinant form retains the functional domains necessary for substrate recognition and catalysis, making it invaluable for both basic research and translational applications aimed at addressing glycosylation-related disorders.
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