| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | ETFDH |
| Uniprot No | Q16134 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 34-617aa |
| 氨基酸序列 | SSTSTVPRITTHYTIYPRDKDKRWEGVNMERFAEEADVVIVGAGPAGLSAAVRLKQLAVAHEKDIRVCLVEKAAQIGAHTLSGACLDPGAFKELFPDWKEKGAPLNTPVTEDRFGILTEKYRIPVPILPGLPMNNHGNYIVRLGHLVSWMGEQAEALGVEVYPGYAAAEVLFHDDGSVKGIATNDVGIQKDGAPKATFERGLELHAKVTIFAEGCHGHLAKQLYKKFDLRANCEPQTYGIGLKELWVIDEKNWKPGRVDHTVGWPLDRHTYGGSFLYHLNEGEPLVALGLVVGLDYQNPYLSPFREFQRWKHHPSIRPTLEGGKRIAYGARALNEGGFQSIPKLTFPGGLLIGCSPGFMNVPKIKGTHTAMKSGILAAESIFNQLTSENLQSKTIGLHVTEYEDNLKNSWVWKELYSVRNIRPSCHGVLGVYGGMIYTGIFYWILRGMEPWTLKHKGSDFERLKPAKDCTPIEYPKPDGQISFDLLSSVALSGTNHEHDQPAHLTLRDDSIPVNRNLSIYDGPEQRFCPAGVYEFVPVEQGDGFRLQINAQNCVHCKTCDIKDPSQNINWVVPEGGGGPAYNGM |
| 预测分子量 | 66.7kDa |
| 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ETFDH重组蛋白的3篇文献概览：
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1. **文献名称**：*Expression, Purification, and Characterization of Human Electron Transfer Flavoprotein Dehydrogenase (ETFDH) in Escherichia coli*
**作者**：Zhang Y, et al.
**摘要**：本研究成功在大肠杆菌中表达了重组人源ETFDH蛋白，通过亲和层析和离子交换层析纯化，并验证了其酶活性。研究为ETFDH功能缺陷相关疾病的机制研究提供了工具。
2. **文献名称**：*Structural Insights into ETFDH Mutations Causing Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency*
**作者**：Gempel K, et al.
**摘要**：通过重组ETFDH蛋白的晶体结构分析，揭示了致病突变(如p.Arg209Trp)如何破坏蛋白稳定性及辅酶结合能力，解释了核黄素治疗的分子基础。
3. **文献名称**：*Functional Rescue of ETFDH Pathogenic Variants by Recombinant Protein Expression in Yeast*
**作者**：Liang WC, et al.
**摘要**：利用酵母系统表达携带不同突变的ETFDH重组蛋白，发现部分突变可通过添加辅因子恢复酶活性，为个性化治疗策略提供了实验依据。
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注：以上文献为示例，实际文献请通过PubMed或Sci-Hub等平台检索关键词(如“ETFDH recombinant”“ETFDH expression”)获取最新研究。
**Background on ETFDH Recombinant Protein**
The Electron Transfer Flavoprotein Dehydrogenase (ETFDH) is a mitochondrial membrane-associated flavoprotein critical in cellular energy metabolism. It functions as a redox enzyme, catalyzing the transfer of electrons from electron transfer flavoprotein (ETF) to the ubiquinone pool in the mitochondrial respiratory chain. This step is essential for fatty acid β-oxidation and amino acid catabolism, linking flavoprotein-dependent dehydrogenases to ATP production via oxidative phosphorylation.
Mutations in the *ETFDH* gene are linked to metabolic disorders such as glutaric acidemia type II (GAII) and multiple acyl-CoA dehydrogenase deficiency (MADD), characterized by impaired mitochondrial energy metabolism, organic aciduria, and neuromuscular dysfunction. Studying ETFDH’s structure-function relationship is vital for understanding disease mechanisms and developing therapies.
Recombinant ETFDH protein, produced via heterologous expression systems (e.g., *E. coli* or mammalian cell lines), enables biochemical and structural analyses. Its purification facilitates investigations into enzymatic activity, cofactor interactions (FAD and ubiquinone), and the impact of pathogenic mutations. Recombinant ETFDH also serves as a tool for drug screening, aiming to identify compounds that enhance residual enzyme activity in patients or stabilize mutant variants.
Recent advances in cryo-EM and X-ray crystallography have provided insights into ETFDH’s dimeric structure, revealing domains involved in substrate binding and electron transfer. Such structural data guide targeted interventions, including chaperone therapy or gene editing approaches. Overall, ETFDH recombinant protein remains a focal point in metabolic disease research and therapeutic innovation.
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