| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | HGSNAT |
| Uniprot No | Q68CP4 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-206aa |
| 氨基酸序列 | MALGLCRCFHPRHSMAAFGLFPALPSALNSHPACTCLLDPSTWRPAHVSGPALASSPQILSVFSLGFPGFVNGSCVSRYKPDIIFPPGLPPPDLPSSVSIFYLQLLCSHGHCCITESGPLLSFSNWPPSLVPHFLKSPVHCHQIKLSPARSPLSEKPPLTWKHHCLAHILTYSPSRLDPHTSFQPPLPLHSLLPPPPPHPLVSPPL |
| 分子量 | 48.7 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 缓冲液 | 0 |
| 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. |
以下是关于重组人HGSNAT蛋白的3篇文献概览，供参考：
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1. **标题**：*"Expression and characterization of recombinant human heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) in Escherichia coli"*
**作者**：Smith, J. et al. (2015)
**摘要**：研究利用大肠杆菌系统成功表达并纯化了重组HGSNAT蛋白，通过酶活性分析验证了其功能，证实其可特异性催化硫酸乙酰肝素的乙酰化反应，为酶替代疗法研究奠定基础。
2. **标题**：*"HGSNAT deficiency disrupts lysosomal function in a cellular model of Sanfilippo syndrome C"*
**作者**：Beesley, C.E. et al. (2012)
**摘要**：通过构建HGSNAT缺陷型细胞模型，研究重组HGSNAT蛋白的递送对溶酶体功能的修复作用，发现重组蛋白显著减少糖胺聚糖积累，为基因治疗提供实验依据。
3. **标题**：*"Structural insights into the molecular mechanism of HGSNAT in mucopolysaccharidosis IIIC"*
**作者**：Zhang, L. et al. (2020)
**摘要**：解析重组HGSNAT蛋白的晶体结构，揭示其底物结合域及催化机制的关键位点，突变实验进一步验证了酶活性与疾病相关突变的关系，助力靶向药物设计。
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**备注**：上述文献为虚拟示例，实际研究中建议通过PubMed、Google Scholar等平台以关键词"recombinant human HGSNAT"、"HGSNAT protein expression"等检索最新论文。
The human heparan-α-glucosaminide N-acetyltransferase (HGSNAT) is a lysosomal membrane enzyme critical for the stepwise degradation of heparan sulfate, a glycosaminoglycan (GAG). It catalyzes the acetylation of residual glucosamine residues during heparan sulfate breakdown, enabling subsequent enzymatic processing. Mutations in the *HGSNAT* gene cause mucopolysaccharidosis IIIC (MPS IIIC or Sanfilippo C), a rare lysosomal storage disorder characterized by progressive neurodevelopmental degeneration due to GAG accumulation. Recombinant human HGSNAT protein is produced via heterologous expression systems (e.g., mammalian cells, yeast, or bacteria) to study its structure, function, and therapeutic potential. Its recombinant form retains enzymatic activity, aiding in mechanistic studies of MPS IIIC pathogenesis and drug screening. Additionally, it serves as a candidate for enzyme replacement therapy (ERT), though challenges like lysosomal targeting remain due to its membrane-associated nature. Structural studies using recombinant HGSNAT have provided insights into pathogenic mutations affecting enzyme stability or substrate binding. Beyond therapeutics, it is used as a tool to investigate lysosomal biology and GAG metabolism. Current research focuses on optimizing delivery methods, including gene therapy vectors or engineered fusion proteins, to enhance its therapeutic efficacy for MPS IIIC.
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