| WB | 咨询技术 | Human,Mouse,Rat |
| IF | 咨询技术 | Human,Mouse,Rat |
| IHC | 1/25-1/100 | Human,Mouse,Rat |
| ICC | 技术咨询 | Human,Mouse,Rat |
| FCM | 咨询技术 | Human,Mouse,Rat |
| Elisa | 1/5000-1/10000 | Human,Mouse,Rat |
| Aliases | EDSP2; SEMDJL1; beta3GalT6 |
| Host/Isotype | Rabbit IgG |
| Antibody Type | Primary antibody |
| Storage | Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles. |
| Species Reactivity | Human, Mouse |
| Immunogen | Synthetic peptide of human B3GALT6 |
| Formulation | Purified antibody in PBS with 0.05% sodium azide and 50% glycerol. |
+ +
以下是3篇与B3GALT6抗体相关的文献摘要概览：
---
1. **文献名称**: *B3GALT6 mutations cause glycosaminoglycan synthesis defects in connective tissue disorders*
**作者**: Nakajima M. et al.
**摘要**: 研究通过Western blot和免疫荧光技术，利用B3GALT6特异性抗体揭示了该基因突变导致的糖胺聚糖合成异常，并与Ehlers-Danlos综合征的表型关联。抗体检测显示突变患者成纤维细胞中B3GALT6蛋白表达显著降低。
---
2. **文献名称**: *Proteoglycan biosynthesis defects in skeletal dysplasia models*
**作者**: Mizumoto S. et al.
**摘要**: 通过构建B3GALT6敲除小鼠模型，使用抗体进行免疫组化分析，发现B3GALT6缺失导致细胞外基质中蛋白聚糖结构异常，进而影响骨骼发育，为相关骨骼发育不良病理机制提供证据。
---
3. **文献名称**: *Functional characterization of pathogenic B3GALT6 variants*
**作者**: Bai X. et al.
**摘要**: 研究通过体外酶活性实验结合抗体介导的蛋白定量，证实B3GALT6致病突变会降低其半乳糖基转移酶活性，并导致细胞中糖胺聚糖链延伸受阻，提示抗体在功能缺失型突变检测中的关键作用。
---
注：上述文献为示例性内容，实际引用需根据具体论文调整。建议通过PubMed或Google Scholar以“B3GALT6 antibody”或“B3GALT6 knockout”为关键词检索最新研究。
The B3GALT6 antibody is a research tool designed to detect β-1.3-galactosyltransferase 6 (B3GALT6), an enzyme encoded by the B3GALT6 gene. This enzyme plays a critical role in glycosaminoglycan (GAG) biosynthesis, particularly in the synthesis of proteoglycans like heparan sulfate and dermatan sulfate, which are essential components of the extracellular matrix. B3GALT6 catalyzes the transfer of galactose to glycoserine residues in the linker region of proteoglycans, a step vital for GAG chain elongation and functional maturation.
Mutations in B3GALT6 are linked to rare autosomal recessive connective tissue disorders, including Ehlers-Danlos syndrome (progeroid type) and spondyloepimetaphyseal dysplasia with joint laxity. These conditions manifest as skeletal abnormalities, joint hypermobility, and skin fragility. The B3GALT6 antibody aids in studying the enzyme's expression, localization, and dysfunction in disease models. Researchers use it in techniques like Western blotting, immunohistochemistry, and immunofluorescence to assess protein levels in tissues or cultured cells, providing insights into molecular mechanisms underlying these disorders. Commercial antibodies are typically raised in rabbits or mice against specific epitopes of the human B3GALT6 protein. However, variability in antibody specificity and affinity necessitates validation via knockout controls or siRNA-based silencing to ensure reliable results. Its applications extend to exploring therapeutic strategies targeting GAG synthesis pathways.
×
