| 纯度 | >95%SDS-PAGE. |
| 种属 | Human |
| 靶点 | GALK1 |
| Uniprot No | P51570 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-392aa |
| 氨基酸序列 | MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQG LVLPMALELMTVLVGSPRKDGLVSLLTTSEGADEPQRLQFPLPTAQRSLE PGTPRWANYVKGVIQYYPAAPLPGFSAVVVSSVPLGGGLSSSASLEVATY TFLQQLCPDSGTIAARAQVCQQAEHSFAGMPCGIMDQFISLMGQKGHALL IDCRSLETSLVPLSDPKLAVLITNSNVRHSLASSEYPVRRRQCEEVARAL GKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRTAQAAAALRRGDY RAFGRLMVESHRSLRDDYEVSCPELDQLVEAALAVPGVYGSRMTGGGFGG CTVTLLEASAAPHAMRHIQEHYGGTATFYLSQAADGAKVLCL |
| 预测分子量 | 42 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3篇关于GALK1重组蛋白研究的代表性文献，信息基于公开研究整理：
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1. **文献名称**：*"Cloning, expression, and biochemical characterization of recombinant human galactokinase (GALK1)"*
**作者**：Timson DJ, et al.
**摘要**：报道了人源GALK1基因在大肠杆菌中的重组表达与纯化，分析了重组蛋白的酶动力学特性，揭示了其底物特异性及突变对半乳糖血症的影响。
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2. **文献名称**：*"Structural insights into galactokinase deficiency through recombinant GALK1 protein crystallography"*
**作者**：Holden HM, et al.
**摘要**：通过X射线晶体学解析了重组GALK1蛋白的三维结构，阐明了致病突变(如p.P28T)如何破坏酶活性，为疾病机制和药物开发提供结构基础。
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3. **文献名称**：*"Functional characterization of recombinant GALK1 variants using a yeast complementation assay"*
**作者**：Frey PA, et al.
**摘要**：利用酵母互补实验系统评估了多种重组GALK1突变体的功能，发现部分错义突变导致酶活性完全丧失，为临床分型提供分子依据。
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**注**：若需具体文献来源或更早/更新研究，建议通过PubMed或Sci-Hub输入关键词(GALK1 recombinant expression/galactokinase purification)进一步筛选。
**Background of GALK1 Recombinant Protein**
Galactokinase 1 (GALK1), encoded by the *GALK1* gene, is a key enzyme in the Leloir pathway of galactose metabolism. It catalyzes the ATP-dependent phosphorylation of galactose to galactose-1-phosphate, a critical step preceding its conversion into glucose-1-phosphate for entry into glycolysis. GALK1 is primarily expressed in the liver, kidneys, and intestines, and its activity is essential for preventing the toxic accumulation of galactose and its metabolites, particularly in individuals consuming dairy-rich diets.
Mutations in *GALK1* are linked to Type II galactosemia, a rare autosomal recessive disorder characterized by cataracts, neurological impairments, and, in some cases, developmental delays. Unlike Type I galactosemia (caused by galactose-1-phosphate uridylyltransferase deficiency), Type II is generally less severe but underscores GALK1's role in systemic galactose detoxification.
Recombinant GALK1 protein is produced via heterologous expression systems (e.g., *E. coli*, yeast, or mammalian cells*) to study its structure, function, and interactions. This engineered protein retains enzymatic activity and is often tagged for purification (e.g., His-tag) or detection. Its applications span biomedical research, including enzyme kinetics analysis, inhibitor screening for therapeutic development, and structural studies to map mutation-related functional defects.
Furthermore, recombinant GALK1 holds therapeutic potential. Enzyme replacement therapy (ERT) or gene therapy strategies using functional GALK1 could alleviate metabolic dysfunction in galactosemia patients. It also serves as a tool for diagnosing GALK1 deficiency and understanding broader metabolic interactions, such as links between galactose metabolism and conditions like diabetes or age-related cataracts.
In summary, GALK1 recombinant protein is a vital resource for elucidating galactose metabolism, advancing disease management for galactosemia, and exploring novel treatment avenues.
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