| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | DARS2 |
| Uniprot No | Q6PI48 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 48-645aa |
| 氨基酸序列 | VVR TNTCGELRSS HLGQEVTLCG WIQYRRQNTF LVLRDFDGLV QVIIPQDESA ASVKKILCEA PVESVVQVSG TVISRPAGQE NPKMPTGEIE IKVKTAELLN ACKKLPFEIK NFVKKTEALR LQYRYLDLRS FQMQYNLRLR SQMVMKMREY LCNLHGFVDI ETPTLFKRTP GGAKEFLVPS REPGKFYSLP QSPQQFKQLL MVGGLDRYFQ VARCYRDEGS RPDRQPEFTQ IDIEMSFVDQ TGIQSLIEGL LQYSWPNDKD PVVVPFPTMT FAEVLATYGT DKPDTRFGMK IIDISDVFRN TEIGFLQDAL SKPHGTVKAI CIPEGAKYLK RKDIESIRNF AADHFNQEIL PVFLNANRNW NSPVANFIME SQRLELIRLM ETQEEDVVLL TAGEHNKACS LLGKLRLECA DLLETRGVVL RDPTLFSFLW VVDFPLFLPK EENPRELESA HHPFTAPHPS DIHLLYTEPK KARSQHYDLV LNGNEIGGGS IRIHNAELQR YILATLLKED VKMLSHLLQA LDYGAPPHGG IALGLDRLIC LVTGSPSIRD VIAFPKSFRG HDLMSNTPDS VPPEELKPYH IRVSKPTDSK AERAH |
| 预测分子量 | 73,5 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DARS2重组蛋白的3篇代表性文献示例(内容基于领域内常见研究方向模拟，实际文献需通过数据库核实)：
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1. **文献名称**：*"Recombinant human DARS2: expression, purification, and enzymatic characterization in mitochondrial disorders"*
**作者**：Chen L, et al.
**摘要**：研究报道了人源DARS2重组蛋白在大肠杆菌中的高效表达与纯化方法，并分析了其催化天冬氨酰-tRNA合成的酶动力学参数，为研究DARS2突变导致的线粒体脑肌病(如LBSL)提供分子基础。
2. **文献名称**：*"Functional analysis of DARS2 mutations using recombinant protein models"*
**作者**：Gomez-Duran A, et al.
**摘要**：通过构建携带LBSL相关突变的DARS2重组蛋白，揭示了突变对蛋白稳定性及与线粒体tRNA结合能力的影响，表明部分错义突变通过破坏酶活性导致线粒体翻译缺陷。
3. **文献名称**：*"DARS2 deficiency in zebrafish: rescue by recombinant protein supplementation"*
**作者**：Smith J, et al.
**摘要**：利用斑马鱼模型模拟DARS2缺陷引起的神经退化表型，发现外源性重组DARS2蛋白可通过恢复线粒体呼吸链复合物活性部分挽救运动功能障碍，提示潜在治疗策略。
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**注**：以上为模拟文献，实际研究需查阅PubMed、Web of Science等平台，结合关键词“DARS2 recombinant protein”或“DARS2 mitochondrial enzyme”检索。
DARS2 (Aspartyl-tRNA Synthetase 2. Mitochondrial) is a nuclear-encoded enzyme critical for mitochondrial protein synthesis. It catalyzes the attachment of aspartic acid to its cognate mitochondrial tRNA (tRNAAsp), ensuring the accuracy of mitochondrial translation. As a member of the class II aminoacyl-tRNA synthetase family, DARS2 is essential for maintaining mitochondrial respiratory chain function, particularly in energy-demanding tissues like the brain, muscles, and heart.
Mutations in the DARS2 gene are linked to autosomal recessive mitochondrial disorders, notably Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL), a rare neurodegenerative disease. Patients typically present with motor deficits, ataxia, and cognitive decline, accompanied by characteristic MRI findings. The pathomechanism involves impaired mitochondrial translation due to dysfunctional DARS2. leading to compromised oxidative phosphorylation and cellular energy deficits. Interestingly, some mutations exhibit tissue-specific effects, suggesting residual enzyme activity or compensatory mechanisms in non-neurological tissues.
Recombinant DARS2 protein is produced via heterologous expression systems (e.g., E. coli or mammalian cells) for functional studies and therapeutic exploration. Its purification often employs affinity tags (e.g., His-tag) followed by chromatographic refinement. Researchers utilize recombinant DARS2 to investigate enzyme kinetics, substrate binding, and mutation-induced structural changes. It also serves as a tool for drug screening to identify compounds that stabilize the protein or enhance its activity.
Current research focuses on understanding genotype-phenotype correlations in LBSL and developing targeted therapies. Recombinant DARS2 has potential applications in gene therapy vectors, enzyme replacement strategies, and as a biomarker for disease monitoring. However, challenges persist in delivering functional enzymes to mitochondria and addressing tissue-specific manifestations. Ongoing studies aim to unravel the nuanced roles of DARS2 in mitochondrial dynamics and its interplay with cellular stress responses.
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