| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | GNPTG |
| Uniprot No | Q9UJJ9 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 25-305aa |
| 氨基酸序列 | AKMKVVEEPNAFGVNNPFLPQASRLQAKRDPSPVSGPVHLFRLSGKCFSLVESTYKYEFCPFHNVTQHEQTFRWNAYSGILGIWHEWEIANNTFTGMWMRDGDACRSRSRQSKVELACGKSNRLAHVSEPSTCVYALTFETPLVCHPHALLVYPTLPEALQRQWDQVEQDLADELITPQGHEKLLRTLFEDAGYLKTPEENEPTQLEGGPDSLGFETLENCRKAHKELSKEIKRLKGLLTQHGIPYTRPTETSNLEHLGHETPRAKSPEQLRGDPGLRGSL |
| 分子量 | 38.7 kDa |
| 蛋白标签 | His tag N-Terminus |
| 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GNPTG蛋白的3篇参考文献的示例（注：文献为虚拟示例，可能需根据实际研究调整作者或标题）：
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1. **文献名称**: *Molecular Cloning and Functional Analysis of Human GNPTG in Lysosomal Enzyme Trafficking*
**作者**: Cathey SS et al.
**摘要**: 研究克隆了人类GNPTG基因并体外表达重组蛋白，发现其与GNPTAB亚基相互作用，对溶酶体酶分选至溶酶体的过程至关重要，突变的GNPTG会导致粘脂贮积症相关表型。
2. **文献名称**: *Crystal Structure of the GNPTG Subunit Reveals Mechanisms of Disease-Causing Mutations*
**作者**: Brett CL et al.
**摘要**: 通过X射线晶体学解析重组人GNPTG蛋白的三维结构，揭示了其与GNPTAB复合物结合的分子机制，并阐明致病突变如何破坏结构稳定性及酶活性。
3. **文献名称**: *GNPTG Knockout Cell Models Highlight Its Role in Lysosomal Biogenesis*
**作者**: Tiede S et al.
**摘要**: 利用CRISPR技术构建GNPTG敲除细胞模型，发现缺失重组GNPTG蛋白导致溶酶体酶错误分选至细胞外，阐明了其在溶酶体生成中的关键作用及疾病机制。
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如需更多领域文献，可补充具体研究方向（如治疗应用或疾病机制）。
Recombinant human GNPTG protein is a key component of the N-acetylglucosamine-1-phosphotransferase complex, which plays a critical role in lysosomal enzyme targeting. GNPTG, encoded by the *GNPTG* gene, forms a heteromeric enzyme with subunits GNPTAB and GNPTG. This complex catalyzes the addition of mannose 6-phosphate (M6P) tags to lysosomal hydrolases in the Golgi apparatus, enabling their recognition by M6P receptors and subsequent trafficking to lysosomes. Dysfunction in GNPTG disrupts lysosomal enzyme sorting, leading to impaired cellular waste degradation and accumulation of undigested substrates.
Mutations in *GNPTG* are associated with mucolipidosis III gamma (ML III γ), a rare autosomal recessive lysosomal storage disorder. Symptoms include skeletal abnormalities, joint stiffness, and mild cognitive impairment. Unlike severe forms of mucolipidosis, ML III γ often manifests later in childhood with slower progression. Recombinant GNPTG protein is produced via genetic engineering (e.g., in mammalian or insect cell systems) to study its structural and functional roles, model disease mechanisms, and explore therapeutic strategies like enzyme replacement or gene therapy. Its characterization aids in understanding substrate recognition specificity, inter-subunit interactions, and potential regulatory pathways influencing lysosomal biogenesis. Research on recombinant GNPTG also contributes to biomarker discovery and drug screening for lysosome-related disorders.
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