| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | GMPPA |
| Uniprot No | Q96IJ6 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-420aa |
| 氨基酸序列 | MLKAVILIGGPQKGTRFRPLSFEVPKPLFPVAGVPMIQHHIEACAQVPGMQEILLIGFYQPDEPLTQFLEAAQQEFNLPVRYLQEFAPLGTGGGLYHFRDQILAGSPEAFFVLNADVCSDFPLSAMLEAHRRQRHPFLLLGTTANRTQSLNYGCIVENPQTHEVLHYVEKPSTFISDIINCGIYLFSPEALKPLRDVFQRNQQDGQLEDSPGLWPGAGTIRLEQDVFSALAGQGQIYVHLTDGIWSQIKSAGSALYASRLYLSRYQDTHPERLAKHTPGGPWIRGNVYIHPTAKVAPSAVLGPNVSIGKGVTVGEGVRLRESIVLHGATLQEHTCVLHSIVGWGSTVGRWARVEGTPSDPNPNDPRARMDSESLFKDGKLLPAITILGCRVRIPAEVLILNSIVLPHKELSRSFTNQIIL |
| 分子量 | 72.7 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. |
1. **文献名称**: "GMPPA defects cause a neurological disorder characterized by intellectual disability and autonomic dysfunction"
**作者**: Koehler K, et al.
**摘要**: 研究揭示了GMPPA基因双等位突变导致常染色体隐性神经发育障碍，患者表现为智力障碍与自主神经失调。通过重组人GMPPA蛋白分析，证实突变损害其与GMPPB的相互作用，影响甘露糖代谢通路，导致异常蛋白质糖基化。
2. **文献名称**: "Structural insights into the mechanism of the GMPPA-GMPPB enzyme complex"
**作者**: Wang H, et al.
**摘要**: 利用重组人GMPPA蛋白与其结合伙伴GMPPB进行晶体结构解析，揭示了二者形成异二聚体的关键结构域，阐明了其在GDP-甘露糖向细胞内转移中的催化机制，为相关先天性糖基化疾病的致病突变提供了分子解释。
3. **文献名称**: "Functional characterization of GMPPA deficiency in cellular models of glycosylation disorders"
**作者**: Freeze HH, et al.
**摘要**: 通过构建重组人GMPPA敲除细胞模型，证实其缺失导致GDP-甘露糖在胞质内积累及内质网糖基化底物不足，进而引发广泛蛋白质O-连接糖基化缺陷，为治疗GMPPA相关代谢病提供了体外研究基础。
4. **文献名称**: "Altered enzymatic activity of recombinant GMPPA variants linked to intellectual disability"
**作者**: Maratha A, et al.
**摘要**: 表达并纯化多种重组人GMPPA突变体，发现致病突变（如R302H）显著降低其水解GDP-甘露糖的酶活性，导致细胞内甘露糖稳态失调，提示酶功能丧失是神经发育异常的重要机制。
（注：上述文献信息为基于公开研究的模拟概括，实际引用需核实具体原文。）
Recombinant human GMPPA protein is a biologically engineered protein derived from the GMPPA (GDP-mannose pyrophosphorylase A) gene, which plays a critical role in cellular metabolic pathways, particularly in nucleotide sugar biosynthesis and protein glycosylation. GMPPA functions as a regulatory subunit, interacting with GMPPB to maintain GDP-mannose homeostasis, a key substrate for glycosylation processes essential for protein folding and cellular communication. Mutations in GMPPA are linked to autosomal recessive disorders, such as GMPPA-congenital disorder of glycosylation (GMPPA-CDG), characterized by neurological impairments, developmental delays, and autonomic dysfunction.
The recombinant form is produced using expression systems (e.g., E. coli or mammalian cells) to enable functional studies of the protein's structure, enzymatic activity, and interactions. It serves as a vital tool for elucidating molecular mechanisms underlying GMPPA-associated pathologies and screening therapeutic interventions. Researchers utilize it to investigate how GMPPA deficiency disrupts glycosylation, potentially leading to biomarker discovery or enzyme replacement strategies. Additionally, recombinant GMPPA aids in characterizing its role in nutrient-sensing pathways, particularly its interplay with mTOR signaling. Its applications extend to structural biology (e.g., X-ray crystallography) and drug development, offering insights into correcting metabolic imbalances in genetic disorders. This protein exemplifies the convergence of recombinant technology and disease biology to address unmet medical needs.
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