| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | DGUOK |
| Uniprot No | Q16854 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 40-277aa |
| 氨基酸序列 | RLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQAAGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERSVYSDRYIFAKNLFENGSLSDIEWHIYQDWHSFLLWEFASRITLHGFIYLQASPQVCLKRLYQRAREEEKGIELAYLEQLHGQHEAWLIHKTTKLHFEALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL |
| 预测分子量 | 44.0 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DGUOK重组蛋白的参考文献示例(注：文献为假设性示例，实际引用需核实真实来源)：
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1. **标题**：*Recombinant Expression and Biochemical Characterization of Human Deoxyguanosine Kinase (DGUOK)*
**作者**：Mandal, S., et al.
**摘要**：本研究在大肠杆菌系统中成功表达并纯化了重组人源DGUOK蛋白，测定了其催化脱氧鸟苷磷酸化的酶动力学参数，并分析了致病突变(如R274Q)对酶活性的抑制作用，为理解线粒体DNA耗竭综合征(MDDS)的分子机制提供依据。
2. **标题**：*Structural Analysis of DGUOK Mutants via Recombinant Protein Crystallography*
**作者**：Johansson, M., et al.
**摘要**：通过X射线晶体学解析了重组DGUOK蛋白及其两种常见突变体(S213L、G87E)的三维结构，发现突变导致活性中心构象改变和底物结合能力下降，解释了患者组织中mtDNA复制障碍的分子基础。
3. **标题**：*Recombinant DGUOK Protein Therapy in a Mouse Model of Mitochondrial Disease*
**作者**：Wang, L., et al.
**摘要**：利用腺相关病毒(AAV)递送重组DGUOK蛋白至DGUOK缺陷小鼠模型，结果显示肝脏和脑部mtDNA水平显著恢复，并改善线粒体呼吸功能，为基因治疗策略提供 preclinical 证据。
4. **标题**：*High-Yield Production of Functional DGUOK in Insect Cells for Drug Screening*
**作者**：Chen, Y., et al.
**摘要**：在昆虫细胞中实现重组DGUOK的高效表达，建立基于该蛋白的药物筛选平台，成功鉴定出小分子激动剂可部分恢复致病突变体的酶活性，推动潜在药物开发。
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**注**：以上文献信息为模拟示例，实际研究中请通过PubMed、Web of Science等数据库检索真实文献。如需具体论文，可进一步提供研究方向或PMID编号。
DGUOK (deoxyguanosine kinase) is a nuclear-encoded mitochondrial enzyme critical for maintaining mitochondrial DNA (mtDNA) integrity. It catalyzes the phosphorylation of deoxyguanosine and deoxyadenosine, the rate-limiting step in the mitochondrial nucleotide salvage pathway, providing essential precursors for mtDNA synthesis. Mutations in the DGUOK gene are linked to mitochondrial DNA depletion syndromes (MDDS), particularly a severe infantile-onset disorder characterized by hepatic failure, neurological deficits, and mtDNA copy number reduction in affected tissues.
Recombinant DGUOK protein is engineered using heterologous expression systems (e.g., E. coli, mammalian cells) to produce purified, functional enzyme for research and therapeutic development. Its production enables detailed biochemical studies, including enzymatic activity assays, substrate specificity profiling, and interaction analyses with potential inhibitors or stabilizers. Recombinant DGUOK is vital for investigating disease mechanisms, screening pharmacological chaperones, and developing enzyme replacement strategies. Structural studies using recombinant protein have revealed insights into its dimeric configuration and active-site dynamics, informing drug design for DGUOK-related disorders.
As a research tool, recombinant DGUOK facilitates the standardization of diagnostic assays for MDDS and the evaluation of mtDNA maintenance pathways. Its availability circumvents challenges in isolating native protein from human tissues, ensuring consistent quality for translational applications. Current efforts focus on optimizing recombinant DGUOK stability and delivery methods to advance preclinical studies, addressing the unmet need for targeted therapies in mitochondrial nucleoside metabolism disorders.
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