| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | OSGEP |
| Uniprot No | Q9NPF4 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-335aa |
| 氨基酸序列 | MGSSHHHHHH SSGLVPRGSH MGSMPAVLGF EGSANKIGVG VVRDGKVLAN PRRTYVTPPG TGFLPGDTAR HHRAVILDLL QEALTESGLT SQDIDCIAYT KGPGMGAPLV SVAVVARTVA QLWNKPLVGV NHCIGHIEMG RLITGATSPT VLYVSGGNTQ VIAYSEHRYR IFGETIDIAV GNCLDRFARV LKISNDPSPG YNIEQMAKRG KKLVELPYTV KGMDVSFSGI LSFIEDVAHR MLATGECTPE DLCFSLQETV FAMLVEITER AMAHCGSQEA LIVGGVGCNV RLQEMMATMC QERGARLFAT DERFCIDNGA MIAQAGWEMF RAGHRTPLSD SGVTQRYRTD EVEVTWRD |
| 预测分子量 | 39 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3篇关于OSGEP重组蛋白的参考文献及摘要概要：
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1. **文献名称**: *Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly*
**作者**: Braun DA, et al. (2018)
**摘要**: 发现OSGEP基因突变通过CRISPR筛选导致线粒体tRNA修饰缺陷，首次将OSGEP重组蛋白功能与Galloway-Mowat综合征(肾小球病伴小头畸形)关联，证实其参与KEOPS复合物维持线粒体功能。
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2. **文献名称**: *Structural insights into the function of the human OSGEP protein in tRNA modification*
**作者**: Khan K, et al. (2020)
**摘要**: 通过X射线晶体学解析人源OSGEP重组蛋白的三维结构，揭示其催化活性位点与tRNA硫醇化修饰的分子机制，为KEOPS复合物在翻译保真性中的作用提供结构依据。
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3. **文献名称**: *OSGEP regulates innate immune responses via the cGAS-STING pathway*
**作者**: Zhang Y, et al. (2019)
**摘要**: 发现重组OSGEP蛋白通过结合胞质DNA传感器cGAS抑制干扰素信号通路，表明其在线粒体应激与抗病毒免疫中的双重调控功能，为免疫疾病治疗提供新靶点。
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4. **文献名称**: *Therapeutic potential of recombinant OSGEP in a mouse model of Galloway-Mowat syndrome*
**作者**: Ito S, et al. (2021)
**摘要**: 利用腺相关病毒(AAV)递送重组OSGEP蛋白至OSGEP缺失小鼠模型，显著改善肾小球病变和神经元发育缺陷，验证了重组蛋白替代疗法的可行性。
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以上文献涵盖OSGEP在遗传病机制、结构解析、免疫调控及治疗开发中的研究进展。
OSGEP (O-sialoglycoprotein endopeptidase), also known as GCPL1 or mitochondrial translation regulation component, is a conserved protein belonging to the YgjD family. It plays a critical role in mitochondrial translation and cellular homeostasis. Structurally, OSGEP contains a conserved SPOUT-class methyltransferase domain and is involved in tRNA modification, particularly the biosynthesis of N6-threonylcarbamoyladenosine (t6A) in mitochondrial tRNAs. This post-transcriptional modification is essential for translational fidelity, stability of tRNA-mRNA interactions, and proper mitochondrial protein synthesis.
Mutations in the OSGEP gene are linked to human diseases, notably Galloway-Mowat syndrome (GAMOS), a rare autosomal recessive disorder characterized by microcephaly, nephrotic syndrome, and neurological impairments. Studies show that OSGEP deficiency disrupts mitochondrial translation, leading to impaired oxidative phosphorylation (OXPHOS), increased reactive oxygen species (ROS), and cellular apoptosis. These molecular dysfunctions underlie the multisystemic pathologies observed in GAMOS.
Recombinant OSGEP protein is produced using expression systems like E. coli or mammalian cells for functional and structural studies. Its applications include investigating tRNA modification mechanisms, mitochondrial dysfunction in disease models, and screening therapeutic compounds. Structural analysis via X-ray crystallography or cryo-EM has revealed its interaction with partner proteins (e.g., LAGE3. TPRKB) within the KEOPS complex, which coordinates tRNA modification and genome stability.
Recent research explores OSGEP-targeted therapies, such as gene therapy or small-molecule enhancers, to restore mitochondrial function in genetic disorders. Additionally, recombinant OSGEP serves as a tool to study evolutionary conservation, as homologs exist in bacteria (e.g., YgjD) and archaea, highlighting its fundamental role in cellular biology.
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