| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | COQ6 |
| Uniprot No | Q9Y2Z9 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-468aa |
| 氨基酸序列 | MAARLVSRCG AVRAAPHSGP LVSWRRWSGA STDTVYDVVV SGGGLVGAAM ACALGYDIHF HDKKILLLEA GPKKVLEKLS ETYSNRVSSI SPGSATLLSS FGAWDHICNM RYRAFRRMQV WDACSEALIM FDKDNLDDMG YIVENDVIMH ALTKQLEAVS DRVTVLYRSK AIRYTWPCPF PMADSSPWVH ITLGDGSTFQ TKLLIGADGH NSGVRQAVGI QNVSWNYDQS AVVATLHLSE ATENNVAWQR FLPSGPIALL PLSDTLSSLV WSTSHEHAAE LVSMDEEKFV DAVNSAFWSD ADHTDFIDTA GAMLQYAVSL LKPTKVSARQ LPPSVARVDA KSRVLFPLGL GHAAEYVRPR VALIGDAAHR VHPLAGQGVN MGFGDISSLA HHLSTAAFNG KDLGSVSHLT GYETERQRHN TALLAATDLL KRLYSTSASP LVLLRTWGLQ ATNAVSPLKE QIMAFASK |
| 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. |
以下是关于COQ6重组蛋白的3篇参考文献的简要信息(注：以下内容为模拟生成，非真实文献)：
1. **文献名称**：*Functional Characterization of Recombinant COQ6 Enzyme in Coenzyme Q10 Biosynthesis*
**作者**：Smith J, Brown K, García-Ruiz E
**摘要**：本研究成功在大肠杆菌中表达并纯化了重组COQ6蛋白，验证其作为单氧合酶在辅酶Q10合成途径中的作用。通过体外酶活实验，证明COQ6催化泛醌中间体的羟基化反应，并依赖FAD作为辅因子。突变分析揭示了关键氨基酸残基对酶活性的影响。
2. **文献名称**：*Structural Insights into COQ6 Mutations Associated with Nephrotic Syndrome*
**作者**：Hernández-López C, Zhang Y, Wang L
**摘要**：通过X射线晶体学解析了人源COQ6重组蛋白的晶体结构，揭示了其与辅酶结合域的关键构象。研究发现，导致肾病综合征的COQ6突变(如R162C)会破坏蛋白稳定性及底物结合能力，通过重组蛋白模型验证了突变对辅酶Q合成缺陷的分子机制。
3. **文献名称**：*Recombinant COQ6 Rescue in a Cellular Model of Coenzyme Q Deficiency*
**作者**：Johnson R, Tanaka M, Lee S
**摘要**：利用昆虫细胞系统表达重组COQ6蛋白，并在COQ6缺陷型细胞系中进行功能回补实验。结果显示，重组COQ6恢复了线粒体辅酶Q水平，改善细胞呼吸链活性，为基因治疗辅酶Q缺乏症提供了体外实验依据。
(如需真实文献，建议通过PubMed或Google Scholar检索关键词“COQ6 recombinant protein”“COQ6 enzyme mechanism”等。)
**Background of COQ6 Recombinant Protein**
COQ6 is a mitochondrial monooxygenase enzyme critical for the biosynthesis of coenzyme Q10 (CoQ10), a lipid-soluble molecule essential for electron transport in the mitochondrial respiratory chain and cellular antioxidant defense. It catalyzes the hydroxylation of demethoxyubiquinone intermediates during CoQ10 synthesis, a process dependent on flavin adenine dinucleotide (FAD) as a cofactor. Mutations in the *COQ6* gene are linked to primary CoQ10 deficiency, a rare autosomal recessive disorder characterized by severe neurological, muscular, and renal manifestations, including steroid-resistant nephrotic syndrome and sensorineural hearing loss.
Recombinant COQ6 protein is produced using heterologous expression systems, such as *E. coli* or mammalian cell lines, to enable functional and structural studies. The recombinant form retains enzymatic activity, allowing researchers to investigate its role in CoQ10 biosynthesis, substrate specificity, and interactions with other proteins in the CoQ10 synthesis pathway. Its production often involves affinity chromatography and tag-based purification to ensure high purity and stability.
Studies utilizing recombinant COQ6 have advanced understanding of disease mechanisms, particularly how specific mutations impair enzyme function or stability, leading to CoQ10 deficiency. Additionally, this protein serves as a tool for drug discovery, including high-throughput screening for small-molecule activators or stabilizers that could rescue pathogenic variants. Efforts to develop enzyme replacement therapies or gene-editing strategies for *COQ6*-related disorders also rely on insights from recombinant COQ6 models. Overall, recombinant COQ6 is pivotal for bridging molecular biology with clinical applications in CoQ10 deficiency syndromes.
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