| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | FAH |
| Uniprot No | P16930 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 2-419aa |
| 氨基酸序列 | SFIPVAEDS DFPIHNLPYG VFSTRGDPRP RIGVAIGDQI LDLSIIKHLF TGPVLSKHQD VFNQPTLNSF MGLGQAAWKE ARVFLQNLLS VSQARLRDDT ELRKCAFISQ ASATMHLPAT IGDYTDFYSS RQHATNVGIM FRDKENALMP NWLHLPVGYH GRASSVVVSG TPIRRPMGQM KPDDSKPPVY GACKLLDMEL EMAFFVGPGN RLGEPIPISK AHEHIFGMVL MNDWSARDIQ KWEYVPLGPF LGKSFGTTVS PWVVPMDALM PFAVPNPKQD PRPLPYLCHD EPYTFDINLS VNLKGEGMSQ AATICKSNFK YMYWTMLQQL THHSVNGCNL RPGDLLASGT ISGPEPENFG SMLELSWKGT KPIDLGNGQT RKFLLDGDEV IITGYCQGDG YRIGFGQCAG KVLPALLPS |
| 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FAH(延胡索酰乙酰乙酸水解酶)重组蛋白研究的3篇代表性文献的简要概括(文献为模拟示例，仅供参考)：
1. **文献名称**：Recombinant Human Fumarylacetoacetate Hydrolase: Characterization and Therapeutic Potential in Hereditary Tyrosinemia Type I
**作者**：Angileri M. et al.
**摘要**：研究利用哺乳动物细胞表达系统成功表达并纯化重组人FAH蛋白，验证其酶活性及热稳定性。动物实验表明，重组FAH可显著降低酪氨酸血症Ⅰ型模型小鼠的毒性代谢物水平，为酶替代疗法提供依据。
2. **文献名称**：High-Yield Production of Functional FAH Protein in E. coli for Metabolic Disease Research
**作者**：Yang L., Grompe M.
**摘要**：报道通过大肠杆菌重组表达系统高效生产可溶性FAH蛋白，优化纯化流程后获得高纯度产物。酶动力学分析显示重组FAH具有与天然酶相似的催化效率，适用于体外疾病机制研究。
3. **文献名称**：CRISPR/Cas9-Mediated FAH Correction in Hepatocytes Using Recombinant Protein Delivery
**作者**：Wang Q. et al.
**摘要**：开发基于重组FAH蛋白与CRISPR系统的联合递送策略，证明重组FAH可暂时维持肝细胞代谢稳态，为CRISPR编辑提供时间窗口。该研究为酪氨酸血症的基因治疗提供了新思路。
(注：以上文献信息为模拟生成，实际研究需通过PubMed、Web of Science等学术平台检索确认。)
Fumarylacetoacetate hydrolase (FAH) is a critical enzyme in the tyrosine catabolism pathway, responsible for catalyzing the final step of breaking down tyrosine into fumarate, acetoacetate, and water. This metabolic process occurs primarily in the liver and kidneys. Mutations in the *FAH* gene lead to hereditary tyrosinemia type 1 (HT1), a rare autosomal recessive disorder characterized by toxic accumulation of metabolites like fumarylacetoacetate (FAA) and maleylacetoacetate (MAA). These compounds cause severe liver dysfunction, renal tubular damage, and neurological crises, often fatal if untreated.
Recombinant FAH protein, produced via genetic engineering in systems like *E. coli* or mammalian cell cultures, has become a vital tool for studying HT1 pathology and developing therapies. Its applications include enzyme replacement therapy (ERT) research, gene therapy vector validation, and biochemical characterization of FAH mutations. For instance, FAH-deficient animal models (e.g., mice) treated with recombinant FAH or gene-editing tools like CRISPR-Cas9 have demonstrated potential for reversing metabolic defects.
Additionally, recombinant FAH aids in structural studies, elucidating mechanisms of enzyme stability and substrate binding. This knowledge informs drug design, such as small-molecule chaperones to stabilize mutant FAH proteins. Beyond therapeutics, FAH recombinant protein is used in stem cell research to differentiate hepatocytes for disease modeling or regenerative medicine.
Current treatments for HT1. like nitisinone (a tyrosine degradation inhibitor) and dietary restrictions, manage symptoms but don’t cure the disease. Recombinant FAH-based approaches, combined with advancements in gene therapy, offer hope for long-term solutions. Research continues to optimize delivery methods (e.g., viral vectors, lipid nanoparticles) and improve enzyme stability in vivo. Overall, FAH recombinant protein serves as a cornerstone for both understanding tyrosine metabolism disorders and pioneering targeted interventions.
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