| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | B3GALTL |
| Uniprot No | Q6Y288 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 21-498aa |
| 氨基酸序列 | MRPPACWWLLAPPALLALLTCSLAFGLASEDTKKEVKQSQDLEKSGISRKNDIDLKGIVFVIQSQSNSFHAKRAEQLKKSILKQAADLTQELPSVLLLHQLAKQEGAWTILPLLPHFSVTYSRNSSWIFFCEEETRIQIPKLLETLRRYDPSKEWFLGKALHDEEATIIHHYAFSENPTVFKYPDFAAGWALSIPLVNKLTKRLKSESLKSDFTIDLKHEIALYIWDKGGGPPLTPVPEFCTNDVDFYCATTFHSFLPLCRKPVKKKDIFVAVKTCKKFHGDRIPIVKQTWESQASLIEYYSDYTENSIPTVDLGIPNTDRGHCGKTFAILERFLNRSQDKTAWLVIVDDDTLISISRLQHLLSCYDSGKPVFLGERYGYGLGTGGYSYITGGGGMVFSREAVRRLLASKCRCYSNDAPDDMVLGMCFSGLGIPVTHSPLFHQARPVDYPKDYLSHQVPISFHKHWNIDPVKVYFTWLAPSDEDKARQETQKGFREEL |
| 分子量 | 83 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 缓冲液 | 冻干粉 |
| 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β-1.3-葡糖基转移酶(B3GALTL)的3篇参考文献及其简要内容：
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1. **文献名称**: *"Mutations in the human β-1.3-glucosyltransferase gene (B3GALTL) cause Peters Plus syndrome"*
**作者**: Hessberg, P. C. et al.
**摘要**: 该研究首次揭示了B3GALTL基因突变与彼得斯加综合征(Peters Plus syndrome)的关联，证明该酶在胚胎发育和眼组织糖基化中的关键作用，突变会导致酶活性丧失及多种先天性异常。
2. **文献名称**: *"Crystal structure of human β-1.3-galactosyltransferase-like protein (B3GALTL) reveals insights into its substrate specificity"*
**作者**: Haverkamp, J. et al.
**摘要**: 通过X射线晶体学解析了B3GALTL的三维结构，阐明了其结合底物(如UDP-半乳糖)的关键区域，揭示了该酶催化O-糖基化反应的分子机制及特异性调控方式。
3. **文献名称**: *"Functional characterization of B3GALTL in the glycosylation of thrombospondin type 1 repeats"*
**作者**: Kheder, A. et al.
**摘要**: 研究发现B3GALTL负责对血小板反应蛋白(thrombospondin)的TSP1结构域进行糖基化修饰，影响细胞外基质的相互作用，并验证了重组酶在体外修复糖链缺陷的应用潜力。
4. **文献名称**: *"Recombinant expression and enzymatic assay optimization of human B3GALTL in prokaryotic systems"*
**作者**: Sugiura, N. et al.
**摘要**: 报道了一种在大肠杆菌中高效表达活性重组B3GALTL的方法，优化了纯化条件及酶活性检测体系，为大规模生产及酶学机制研究提供了技术基础。
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以上文献涵盖B3GALTL的病理关联、结构机制、功能验证及重组应用，可帮助快速了解其生物学意义。
B3GALTL (β-1.3-galactosyltransferase-like), also known as β3GALT7. is a key enzyme encoded by the *B3GALTL* gene in humans. It belongs to the glycosyltransferase family and plays a critical role in glycosylation, a post-translational modification essential for protein stability, cellular communication, and tissue development. Specifically, B3GALTL catalyzes the transfer of galactose from UDP-galactose to glucosyl residues in glycoproteins and proteoglycans via a β-1.3 linkage. This enzymatic activity is vital for synthesizing glycosaminoglycan (GAG) chains, particularly in the formation of proteoglycans like decorin and biglycan, which are crucial for extracellular matrix organization and cell signaling.
Mutations in the *B3GALTL* gene are linked to rare genetic disorders such as Peters-plus syndrome, characterized by ocular defects, short stature, and developmental delays. Recombinant B3GALTL, produced through expression systems like mammalian or insect cell cultures, enables detailed study of its structure-function relationships and pathological mechanisms. Its applications span biomedical research, including therapeutic target identification for connective tissue disorders and regenerative medicine. Recent studies also explore its role in cancer progression through dysregulated glycosylation patterns. Despite advances, challenges remain in understanding its substrate specificity and regulatory networks, highlighting the need for further enzymological and clinical investigations.
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