| 纯度 | >85%SDS-PAGE. |
| 种属 | Human |
| 靶点 | GARS |
| Uniprot No | P41250 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-739aa |
| 氨基酸序列 | MPSPRPVLLR GARAALLLLL PPRLLARPSL LLRRSLSAAS CPPISLPAAA SRSSMDGAGA EEVLAPLRLA VRQQGDLVRK LKEDKAPQVD VDKAVAELKA RKRVLEAKEL ALQPKDDIVD RAKMEDTLKR RFFYDQAFAI YGGVSGLYDF GPVGCALKNN IIQTWRQHFI QEEQILEIDC TMLTPEPVLK TSGHVDKFAD FMVKDVKNGE CFRADHLLKA HLQKLMSDKK CSVEKKSEME SVLAQLDNYG QQELADLFVN YNVKSPITGN DLSPPVSFNL MFKTFIGPGG NMPGYLRPET AQGIFLNFKR LLEFNQGKLP FAAAQIGNSF RNEISPRSGL IRVREFTMAE IEHFVDPSEK DHPKFQNVAD LHLYLYSAKA QVSGQSARKM RLGDAVEQGV INNTVLGYFI GRIYLYLTKV GISPDKLRFR QHMENEMAHY ACDCWDAESK TSYGWIEIVG CADRSCYDLS CHARATKVPL VAEKPLKEPK TVNVVQFEPS KGAIGKAYKK DAKLVMEYLA ICDECYITEM EMLLNEKGEF TIETEGKTFQ LTKDMINVKR FQKTLYVEEV VPNVIEPSFG LGRIMYTVFE HTFHVREGDE QRTFFSFPAV VAPFKCSVLP LSQNQEFMPF VKELSEALTR HGVSHKVDDS SGSIGRRYAR TDEIGVAFGV TIDFDTVNKT PHTATLRDRD SMRQIRAEIS ELPSIVQDLA NGNITWADVE ARYPLFEGQE TGKKETIEE |
| 预测分子量 | 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. |
1. **"Expression and Functional Analysis of Recombinant Human Glycyl-tRNA Synthetase"**
*作者：Antonellis A, et al.*
**摘要**：本研究成功在大肠杆菌中表达并纯化了重组人GARS蛋白，证实其具有甘氨酸-tRNA氨酰化活性，并发现某些致病突变会显著降低其酶活性，提示功能异常与神经病变相关。
2. **"Structural Insights into the Pathogenicity of GARS Mutations in Charcot-Marie-Tooth Disease"**
*作者：Motley W, et al.*
**摘要**：通过重组GARS突变体蛋白的结构分析，揭示了突变导致酶活性中心构象变化，破坏底物结合能力，为CMT疾病的分子机制提供了解释。
3. **"A Yeast Model for Functional Characterization of Dominant GARS Variants"**
*作者：Oprescu S, et al.*
**摘要**：利用酵母系统表达重组人GARS蛋白，验证了多个CMT相关突变的显性负效应，表明其通过干扰tRNA氨酰化导致细胞毒性。
4. **"High-Yield Purification of Recombinant GARS for Drug Screening Applications"**
*作者：Kim H, et al.*
**摘要**：开发了一种高效重组GARS蛋白纯化方案，用于高通量药物筛选，以寻找恢复突变GARS酶活性的潜在化合物。
(注：上述文献为示例，实际引用需根据具体论文调整。)
**Background of GARS Recombinant Protein**
GARS (Glycyl-tRNA Synthetase) is a member of the aminoacyl-tRNA synthetase (AARS) family, enzymes essential for protein synthesis. It catalyzes the attachment of glycine to its cognate tRNA during translation, ensuring the fidelity of genetic code interpretation. In humans, GARS is encoded by the *GARS1* gene, located on chromosome 7. and exists in cytoplasmic and mitochondrial isoforms due to alternative splicing. Beyond its canonical role, GARS exhibits non-catalytic functions, including involvement in transcriptional regulation and cellular stress responses.
Mutations in *GARS1* are linked to Charcot-Marie-Tooth disease (CMT), a hereditary peripheral neuropathy, and distal spinal muscular atrophy. These dominant mutations often impair enzyme activity or trigger toxic gain-of-function mechanisms, disrupting neuronal homeostasis. This association has driven interest in studying GARS structure-function relationships and pathogenicity.
Recombinant GARS protein, produced via heterologous expression systems (e.g., *E. coli* or mammalian cells), enables detailed biochemical and structural analyses. Its production typically involves cloning the *GARS1* gene into expression vectors, followed by purification using affinity chromatography. Recombinant GARS is pivotal for *in vitro* studies, including enzyme kinetics, inhibitor screening, and mapping disease-associated mutations. Additionally, it aids in developing therapeutic strategies, such as small-molecule correctors for CMT or gene-editing approaches.
Overall, GARS recombinant protein serves as a critical tool for unraveling molecular mechanisms in neuropathies and advancing targeted therapies, bridging gaps between genetic insights and clinical applications.
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