| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | ALDH7A1 |
| Uniprot No | P49419 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 27-539aa |
| 氨基酸序列 | AFMS TLLINQPQYA WLKELGLREE NEGVYNGSWG GRGEVITTYC PANNEPIARV RQASVADYEE TVKKAREAWK IWADIPAPKR GEIVRQIGDA LREKIQVLGS LVSLEMGKIL VEGVGEVQEY VDICDYAVGL SRMIGGPILP SERSGHALIE QWNPVGLVGI ITAFNFPVAV YGWNNAIAMI CGNVCLWKGA PTTSLISVAV TKIIAKVLED NKLPGAICSL TCGGADIGTA MAKDERVNLL SFTGSTQVGK QVGLMVQERF GRSLLELGGN NAIIAFEDAD LSLVVPSALF AAVGTAGQRC TTARRLFIHE SIHDEVVNRL KKAYAQIRVG NPWDPNVLYG PLHTKQAVSM FLGAVEEAKK EGGTVVYGGK VMDRPGNYVE PTIVTGLGHD ASIAHTETFA PILYVFKFKN EEEVFAWNNE VKQGLSSSIF TKDLGRIFRW LGPKGSDCGI VNVNIPTSGA EIGGAFGGEK HTGGGRESGS DAWKQYMRRS TCTINYSKDL PLAQGIKFQ |
| 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ALDH7A1重组蛋白的3篇代表性文献摘要：
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1. **文献名称**: "Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity"
**作者**: Marchitti, S.A. et al.
**摘要**: 本研究成功在大肠杆菌中表达并纯化了重组人源ALDH7A1蛋白，证实其能够高效催化多种脂质过氧化产物(如4-羟基壬烯醛)的解毒作用，并揭示了其在保护细胞免受氧化应激损伤中的关键作用。
2. **文献名称**: "Structural and functional characterization of human ALDH7A1. a key enzyme in lysine catabolism"
**作者**: Brocker, C. et al.
**摘要**: 通过X射线晶体学解析了ALDH7A1重组蛋白的三维结构，结合酶动力学实验，阐明了其底物结合口袋的关键氨基酸残基，并验证了其在赖氨酸代谢途径中对α-氨基己二酸半醛(AASA)的特异性催化机制。
3. **文献名称**: "ALDH7A1 mutations and pyridoxine-dependent epilepsy: molecular insights into genotype-phenotype correlations"
**作者**: Jansen, L.A. et al.
**摘要**: 研究构建了多个ALDH7A1致病突变体的重组蛋白，通过体外酶活实验证实这些突变导致催化活性显著下降，揭示了患者体内吡哆醇代谢紊乱与癫痫发作的分子关联，为精准治疗提供依据。
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以上文献涵盖了ALDH7A1重组蛋白的生化功能、结构解析及疾病相关突变研究，可作为相关领域的基础参考。
ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1) is a NAD+-dependent enzyme belonging to the aldehyde dehydrogenase superfamily. It plays a critical role in cellular detoxification by catalyzing the oxidation of harmful aldehydes into non-toxic carboxylic acids. Specifically, ALDH7A1 is involved in the lysine degradation pathway, where it converts α-aminoadipic semialdehyde (α-AASA) to α-aminoadipic acid. This enzymatic activity links ALDH7A1 to pyridoxine (vitamin B6) metabolism, as α-AASA accumulation disrupts B6 homeostasis.
Mutations in the ALDH7A1 gene are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by seizures resistant to conventional anticonvulsants but responsive to high-dose pyridoxine. Research on ALDH7A1 has gained momentum to understand its structural and functional mechanisms, driving demand for recombinant ALDH7A1 protein. Recombinant ALDH7A1 is typically produced in bacterial (e.g., E. coli) or mammalian expression systems, enabling studies on enzyme kinetics, substrate specificity, and inhibitor screening. The protein is often purified via affinity tags (e.g., His-tag) followed by size-exclusion chromatography.
Its crystal structure, resolved in recent years, reveals a conserved aldehyde dehydrogenase fold with unique substrate-binding features. Recombinant ALDH7A1 serves as a tool for developing therapeutic strategies for PDE, including enzyme replacement therapies and small-molecule chaperones. Additionally, it aids in biomarker discovery and toxicology studies related to aldehyde metabolism disorders. Ongoing research focuses on optimizing its stability and activity for clinical applications.
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