| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | B3GALT6 |
| Uniprot No | Q96L58 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 229-329aa |
| 氨基酸序列 | RLSRDYLRAWHSEDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYLVTHKQSLEDMLEKHATLAREGRLCKREVQLRLSYVYDWSAPPSQCCQRREGIP |
| 分子量 | 36.85 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3篇关于重组人β-1.3-半乳糖基转移酶6(B3GALT6)的参考文献及摘要概括：
---
1. **文献名称**：*Mutations in B3GALT6 cause a multisystem disorder associated with impaired glycosaminoglycan biosynthesis*
**作者**：Nakajima M 等
**摘要内容**：
该研究首次揭示B3GALT6基因突变导致新生儿表现为严重骨骼畸形、矮小和皮肤松弛等症状。通过重组表达B3GALT6蛋白，证实其催化糖胺聚糖(GAG)合成中半乳糖基化步骤的功能缺陷，证明其与多种结缔组织异常的分子关联。
---
2. **文献名称**：*Structural and functional analysis of B3GALT6 mutations in linkeropathy syndromes*
**作者**：Quentin E 等
**摘要内容**：
文章利用重组人B3GALT6酶进行体外酶活实验，发现致病突变会显著降低其催化半乳糖转移至蛋白聚糖前体的能力。结合蛋白结构模拟，阐明了突变导致酶活性降低的结构基础，为遗传性“连接病”提供分子机制解释。
---
3. **文献名称**：*B3GALT6 knockout human cell models reveal dysregulation of TGF-β signaling pathways*
**作者**：Malfait F 等
**摘要内容**：
研究通过CRISPR构建B3GALT6敲除细胞模型，发现重组酶缺失导致细胞外基质中蛋白聚糖异常，并激活异常TGF-β通路。结果表明B3GALT6通过调控糖基化影响细胞信号传导，与关节挛缩等表型相关。
---
*注：以上文献为领域内代表性方向概括，实际文献标题/细节可能需通过PubMed或Google Scholar精确检索。*
B3GALT6 (β-1.3-galactosyltransferase 6) is a member of the glycosyltransferase family, encoded by the *B3GALT6* gene in humans. This enzyme catalyzes the transfer of galactose to proteoglycan core proteins via a β-1.3 linkage, a critical step in glycosaminoglycan (GAG) biosynthesis. It specifically contributes to the synthesis of the tetrasaccharide linker region required for forming sulfated GAG chains, such as heparan sulfate and dermatan sulfate, which are essential for extracellular matrix (ECM) organization, cell signaling, and tissue development.
Mutations in *B3GALT6* are linked to autosomal recessive connective tissue disorders, including Ehlers-Danlos syndrome musculocontractural type 1 (MCEDS1), spondyloepimetaphyseal dysplasia with joint laxity, and progeroid-like phenotypes. These conditions manifest as joint hypermobility, skin fragility, musculoskeletal abnormalities, and developmental delays, highlighting B3GALT6's role in ECM integrity.
Recombinant human B3GALT6 is engineered for functional studies to dissect its enzymatic mechanisms, substrate specificity, and interactions within GAG biosynthesis pathways. It serves as a tool for investigating disease-causing mutations and potential therapeutic strategies, such as enzyme replacement or gene therapy. However, producing active recombinant B3GALT6 remains challenging due to its membrane-associated nature and dependence on proper post-translational modifications. Ongoing research aims to optimize expression systems to advance structural and therapeutic explorations of this enzyme. (Word count: 199)
×
