| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | TMLHE |
| Uniprot No | Q9NVH6 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 16-376aa |
| 氨基酸序列 | LLKGGVIYPALPQPNFKSLLPLAVHWHHTASKSLTCAWQQHEDHFELKYANTVMRFDYVWLRDHCRSASCYNSKTHQRSLDTASVDLCIKPKTIRLDETTLFFTWPDGHVTKYDLNWLVKNSYEGQKQKVIQPRILWNAEIYQQAQVPSVDCQSFLETNEGLKKFLQNFLLYGIAFVENVPPTQEHTEKLAERISLIRETIYGRMWYFTSDFSRGDTAYTKLALDRHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQVLQKAPEEFELLSKVPLKHEYIEDVGECHNHMIGIGPVLNIYPWNKELYLIRLFKEKQNTVNRQWNSSLQCDIPERILTYRHFVSGTSIEHRGSLI |
| 预测分子量 | 46.1 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TMLHE重组蛋白的3篇模拟参考文献(基于领域内常见研究方向，非真实文献)：
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1. **文献名称**：*Expression and Functional Characterization of Recombinant Human ε-Trimethyllysine Hydroxylase (TMLHE) in E. coli*
**作者**：Smith J, et al.
**摘要**：本研究成功构建了人源TMLHE的重组表达载体，并利用大肠杆菌系统实现高效可溶性表达。通过体外酶活实验证实重组蛋白具有催化ε-三甲基赖氨酸羟化的功能，为肉碱合成途径的机制研究提供了工具。
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2. **文献名称**：*Structural Insights into TMLHE Catalytic Mechanism via X-ray Crystallography of Recombinant Enzyme*
**作者**：Chen L, et al.
**摘要**：报道了重组TMLHE蛋白的晶体结构(分辨率2.1Å)，揭示了其活性中心的铁离子结合位点及底物识别区域，结合动力学实验阐明了其依赖α-酮戊二酸的羟化反应机制。
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3. **文献名称**：*TMLHE Deficiency and Autism Spectrum Disorder: Functional Rescue by Recombinant Protein Supplementation in Cellular Models*
**作者**：Wang Y, et al.
**摘要**：在TMLHE基因缺陷的细胞模型中，外源性添加重组TMLHE蛋白可恢复肉碱前体合成，并改善线粒体功能异常，提示重组蛋白在代谢干预治疗中的潜在应用价值。
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注：以上文献为基于研究领域合理模拟的内容，实际引用时请核实真实文献数据库(如PubMed)。
**Background of TMLHE Recombinant Protein**
TMLHE (Trimethyllysine Hydroxylase, Epsilon), also known as ε-trimethyllysine hydroxylase, is a mitochondrial enzyme encoded by the *TMLHE* gene. It catalyzes the first and rate-limiting step in the biosynthesis of carnitine, a critical molecule for fatty acid metabolism. Specifically, TMLHE hydroxylates ε-trimethyllysine (TML) to form hydroxytrimethyllysine (HTML), initiating the conversion of TML—derived from protein degradation—into carnitine. Carnitine is essential for shuttling long-chain fatty acids into mitochondria for β-oxidation, a key energy-generating process, particularly in tissues like the heart and skeletal muscle.
TMLHE deficiency, linked to mutations in the *TMLHE* gene, is associated with primary carnitine deficiency, a rare autosomal recessive disorder. This condition disrupts carnitine synthesis, leading to metabolic crises, cardiomyopathy, and muscle weakness. The *TMLHE* gene is located on the X chromosome, and its dysfunction has also been implicated in neurodevelopmental disorders, including autism spectrum disorder (ASD), though the exact mechanisms remain under investigation.
Recombinant TMLHE protein is produced via genetic engineering, typically using bacterial, yeast, or mammalian expression systems. This allows large-scale production of purified, functional enzyme for research and therapeutic applications. Recombinant TMLHE enables detailed studies of its structure, catalytic activity, and interactions with substrates or inhibitors. It also serves as a tool to investigate molecular defects in TMLHE variants from patients, aiding in diagnostics and personalized treatment strategies.
In drug development, recombinant TMLHE is used to screen small molecules or gene therapies aimed at restoring enzyme activity in deficiency disorders. Additionally, it supports research on carnitine metabolism and its broader implications in metabolic diseases, aging, and mitochondrial dysfunction. The availability of recombinant TMLHE thus bridges basic science and clinical applications, offering insights into both rare genetic disorders and fundamental biochemical pathways.
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