| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | L2HGDH |
| Uniprot No | Q9H9P8 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 52-463aa |
| 氨基酸序列 | VIVGGGIVGLASARALILRHPSLSIGVLEKEKDLAVHQTGHNSGVIHSGIYYKPESLKAKLCVQGAALLYEYCQQKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNGVPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL |
| 预测分子量 | 61.3kDa |
| 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L2HGDH重组蛋白的3篇代表性文献的简要总结：
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1. **文献名称**: *Cloning and expression of L-2-hydroxyglutarate dehydrogenase, a novel enzyme linked to L-2-hydroxyglutaric aciduria*
**作者**: Rzem, R., Veiga-da-Cunha, M., Noël, G., et al.
**摘要**: 该研究首次成功克隆并表达了人源L2HGDH基因，证实其在体外可催化L-2-羟基戊二酸转化为α-酮戊二酸。通过重组蛋白表达，揭示了该酶功能缺失与L-2-羟基戊二酸尿症(一种罕见神经代谢疾病)的直接关联。
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2. **文献名称**: *Mutations in L2HGDH promote oncometabolite accumulation and disrupt mitochondrial metabolism*
**作者**: Sass, J.O., Engqvist, M., Sijmonsma, T.P., et al.
**摘要**: 通过重组L2HGDH蛋白的酶活分析，发现致病突变导致酶活性显著下降，导致L-2-羟基戊二酸在细胞内异常积累。研究进一步证明该代谢物干扰线粒体能量代谢，为相关疾病的分子机制提供了依据。
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3. **文献名称**: *Recombinant L2HGDH protein rescues metabolic dysfunction in a cellular model of L-2-HGA*
**作者**: Struys, E.A., Salomons, G.S., Achouri, Y., et al.
**摘要**: 研究利用重组L2HGDH蛋白在患者来源的细胞模型中进行酶替代治疗实验，发现外源重组蛋白可有效降解L-2-羟基戊二酸，恢复细胞代谢稳态，为潜在治疗策略提供了实验基础。
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如需具体文献链接或更多研究，可进一步通过PubMed或Sci-Hub检索DOI编号。
L2HGDH (L-2-hydroxyglutarate dehydrogenase) is a mitochondrial enzyme encoded by the *L2HGDH* gene, primarily involved in the metabolism of L-2-hydroxyglutarate (L-2-HG) to α-ketoglutarate (α-KG). This reaction is critical for maintaining cellular metabolic homeostasis, as α-KG serves as a key intermediate in the tricarboxylic acid (TCA) cycle and a cofactor for dioxygenases regulating epigenetic modifications. Mutations in *L2HGDH* lead to L-2-hydroxyglutaric aciduria (L-2-HGA), a rare autosomal recessive neurometabolic disorder characterized by elevated L-2-HG levels in bodily fluids, progressive brain damage, and neurological symptoms such as epilepsy and developmental delays.
Recombinant L2HGDH protein is engineered using expression systems (e.g., *E. coli* or mammalian cells) to produce purified, functional enzyme for research and therapeutic exploration. Its production enables detailed biochemical studies, including enzyme kinetics, substrate specificity, and structural analyses (e.g., X-ray crystallography), which are essential for understanding the molecular basis of L-2-HGA and developing targeted therapies. Recombinant L2HGDH also aids in screening potential pharmacological chaperones or small molecules that could restore enzyme activity in patients. Additionally, it serves as a tool to investigate the broader role of L-2-HG in pathologies beyond inborn errors, such as cancer, where aberrant L-2-HG accumulation due to *L2HGDH* silencing or mutations influences DNA methylation patterns and promotes tumorigenesis. Efforts to harness recombinant L2HGDH for enzyme replacement therapy or gene therapy are ongoing, reflecting its potential in addressing unmet medical needs in metabolic and oncological diseases.
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