| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | ELOVL4 |
| Uniprot No | Q9GZR5 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-314aa |
| 氨基酸序列 | MGLLDSEPGSVLNVVSTALNDTVEFYRWTWSIADKRVENWPLMQSPWPTLSISTLYLLFV WLGPKWMKDREPFQMRLVLIIYNFGMVLLNLFIFRELFMGSYNAGYSYICQSVDYSNNVH EVRIAAALWWYFVSKGVEYLDTVFFILRKKNNQVSFLHVYHHCTMFTLWWIGIKWVAGGQ AFFGAQLNSFIHVIMYSYYGLTAFGPWIQKYLWWKRYLTMLQLIQFHVTIGHTALSLYTD CPFPKWMHWALIAYAISFIFLFLNFYIRTYKEPKKPKAGKTAMNGISANGVSKSEKQLMI ENGKKQKNGKAKGD |
| 分子量 | 36.8 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 缓冲液 | 0 |
| 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. |
以下是关于重组人ELOVL4蛋白研究的参考文献示例(注：文献信息为模拟概括性内容，供参考格式)：
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1. **文献名称**：*Expression and Functional Characterization of Recombinant Human ELOVL4 in a Retinal Cell Model*
**作者**：Mandell, R.B. et al.
**摘要**：研究报道了在大肠杆菌中成功表达重组人ELOVL4蛋白，并通过体外实验验证其作为脂肪酸延长酶的功能。实验表明，ELOVL4特异性参与超长链脂肪酸(VLC-FA)的合成，且其突变会导致酶活性显著降低，提示与遗传性视网膜病变的关联。
2. **文献名称**：*ELOVL4 Mutations Disrupt Peroxisome Homeostasis: Insights from Recombinant Protein Studies*
**作者**：Hopiavuori, B.R. et al.
**摘要**：通过重组ELOVL4蛋白的体外表达及细胞模型分析，发现该蛋白的致病突变体导致过氧化物酶体功能异常，影响神经细胞中脂质代谢平衡，为视网膜变性疾病的分子机制提供了新证据。
3. **文献名称**：*Recombinant ELOVL4 Rescues Photoreceptor Degeneration in a Mouse Model*
**作者**：Agbaga, M.P. et al.
**摘要**：研究利用重组ELOVL4蛋白对携带ELOVL4突变的转基因小鼠进行干预，发现外源性蛋白能部分恢复视网膜感光细胞中VLC-FA的水平，延缓疾病进展，为基因治疗提供了潜在策略。
4. **文献名称**：*Structural Insights into Human ELOVL4 by Cryo-EM Analysis of Recombinant Protein*
**作者**：Zhang, Y. et al.
**摘要**：首次通过冷冻电镜解析了重组人ELOVL4蛋白的高分辨率结构，揭示了其催化结构域的关键氨基酸残基及其与辅酶A的相互作用机制，为设计靶向药物奠定结构基础。
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**注**：以上文献名称及作者为模拟示例，实际引用时请根据真实数据库(如PubMed、Web of Science)检索并核实具体信息。
The human ELOVL4 (Elongation of Very Long-Chain Fatty Acids 4) protein is a member of the ELOVL enzyme family, which plays a critical role in the elongation of saturated and polyunsaturated fatty acids (FAs). Specifically, ELOVL4 catalyzes the formation of very long-chain (≥C28) fatty acids, including those essential for synthesizing specialized lipids in the brain, retina, and skin. It is uniquely expressed in neuronal tissues and photoreceptor cells, where it contributes to the production of sphingolipids and phosphatidylcholines critical for membrane structure and cellular signaling.
Mutations in the ELOVL4 gene are linked to neurodevelopmental disorders, such as infantile-onset seizures, intellectual disability, and autosomal dominant Stargardt-like macular dystrophy (STGD3), a condition characterized by retinal degeneration and vision loss. The truncated form of ELOVL4 resulting from these mutations disrupts normal lipid synthesis, leading to toxic lipid accumulation or compromised cellular integrity.
Recombinant human ELOVL4 protein is produced via heterologous expression systems (e.g., E. coli, mammalian cells) for functional and structural studies. Its production enables research into disease mechanisms, lipid metabolism pathways, and potential therapeutic strategies. Challenges in recombinant expression include maintaining proper membrane association and enzymatic activity due to ELOVL4’s hydrophobic domains. Current studies focus on resolving its 3D structure and elucidating substrate specificity to guide drug development for ELOVL4-related disorders.
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