| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | MPV17 |
| Uniprot No | P39210 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-176aa |
| 氨基酸序列 | MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCGFVGPVVGGWYKVLDRFIPGTTKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQCVAVIWNSYLSWKAHRL |
| 预测分子量 | 35.7 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3-4篇关于MPV17重组蛋白的参考文献及其摘要内容概述：
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1. **文献名称**：**"MPV17 is essential for proper mitochondrial function in vivo and its loss results in liver-specific metabolic disturbances"**
**作者**：Karasinska, J.M., et al.
**摘要**：
该研究通过构建MPV17基因敲除小鼠模型，发现MPV17蛋白缺失导致严重的线粒体DNA(mtDNA)耗竭和肝功能异常，提示MPV17在维持线粒体DNA稳定性和能量代谢中起关键作用。重组MPV17蛋白的体外实验表明其可能通过调控核苷酸代谢维持mtDNA完整性。
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2. **文献名称**：**"MPV17 mutations causing adult-onset mitochondrial DNA depletion syndrome"**
**作者**：Viscomi, C., et al.
**摘要**：
研究报道了MPV17基因突变导致成人型线粒体DNA耗竭综合征的临床案例，并通过重组MPV17蛋白的功能实验揭示了突变体蛋白在线粒体内膜上的定位异常及其与氧化磷酸化复合物功能障碍的关联，为疾病机制提供分子层面的解释。
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3. **文献名称**：**"The role of MPV17 in mitochondrial-associated disorders: Insights from structural and functional studies"**
**作者**：El-Hattab, A.W., et al.
**摘要**：
该综述总结了MPV17蛋白的结构特征及其在线粒体内膜中的功能，包括其在核苷酸转运和抗氧化防御中的作用。研究还讨论了重组MPV17蛋白在疾病模型中的应用，以及潜在的治疗策略。
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4. **文献名称**：**"MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion"**
**作者**：Spinazzola, A., et al.
**摘要**：
该研究首次鉴定了MPV17基因突变与婴儿肝性脑病中线粒体DNA耗竭综合征的关联，并通过重组蛋白表达证实MPV17定位于线粒体内膜，其功能缺失导致mtDNA复制障碍及线粒体能量代谢衰竭。
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以上文献涵盖了MPV17的基因功能、疾病关联及重组蛋白研究，可作为该领域的基础参考资料。如需获取全文，建议通过PubMed或Sci-Hub等平台检索具体DOI或PMID。
**Background of MPV17 Recombinant Protein**
MPV17 is a nuclear-encoded mitochondrial protein critical for maintaining mitochondrial DNA (mtDNA) integrity and function. The *MPV17* gene, first linked to human disease in 2006. is associated with mitochondrial DNA depletion syndromes (MDDS), particularly hepatocerebral forms characterized by infantile-onset liver failure, neurological deficits, and mtDNA copy number reduction. Mutations in *MPV17* disrupt mitochondrial homeostasis, leading to impaired energy production, oxidative stress, and cell death.
The MPV17 protein localizes to the mitochondrial inner membrane, though its precise molecular function remains under investigation. Proposed roles include regulating nucleotide pools for mtDNA replication, modulating mitochondrial membrane permeability, or participating in redox regulation. Its absence or dysfunction causes severe tissue-specific mtDNA depletion, notably in liver and brain.
Recombinant MPV17 protein is produced via heterologous expression systems (e.g., *E. coli* or mammalian cell lines) to study its structure, interactions, and mechanisms. This engineered protein enables *in vitro* and *in vivo* studies to dissect pathological pathways in MPV17-related disorders and test therapeutic strategies. For example, recombinant MPV17 aids in elucidating how specific mutations impair protein stability, oligomerization, or localization.
Research using recombinant MPV17 also explores gene therapy approaches, such as AAV-mediated *MPV17* delivery to rescue mtDNA maintenance in models. Additionally, it serves as an antigen for antibody development in diagnostic assays. Despite progress, challenges remain in fully characterizing MPV17’s native interactions and translating findings into therapies. Current efforts focus on small-molecule screens to bypass MPV17 dysfunction and optimize recombinant protein delivery systems for clinical applications.
In summary, MPV17 recombinant protein is a vital tool for understanding mitochondrial biology and advancing treatments for rare, fatal mitochondrial disorders linked to *MPV17* mutations.
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