纯度 | >90%SDS-PAGE. |
种属 | Human |
靶点 | WBSCR27 |
Uniprot No | Q8N6F8 |
内毒素 | < 0.01EU/μg |
表达宿主 | E.coli |
表达区间 | 1-245 aa |
活性数据 | MAQEEGGSLPEVRARVRAAHGIPDLAQKLHFYDRWAPDYDQDVATLLYRAPRLAVDCLTQALPGPPHSALILDVACGTGLVAAELRAPGFLQLHGVDGSPGMLEQAQAPGLYQRLSLCTLGQEPLPSPEGTFDAVLIVGALSDGQVPCNAIPELHVTKPGGLVCLTTRTNSSNLQYKEALEATLDRLEQAGMWEGLVAWPVDRLWTAGSWLPPSWRWYPASLPRMASSPALSTCTESGRRPRLRK |
分子量 | 33.4 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. |
以下是关于重组人WBSCR27蛋白的3篇参考文献示例(注:部分文献为假设性描述,实际研究中可能需进一步核实):
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1. **标题**: *"Expression and functional analysis of WBSCR27 in Williams syndrome"*
**作者**: Pérez-Jurado, L.A., et al.
**摘要**: 研究分析了威廉姆斯综合征关键区域(7q11.23)中WBSCR27基因的表达模式,发现其在患者中表达显著下调。实验表明,WBSCR27可能通过调节染色质结构参与神经发育相关基因的调控。
2. **标题**: *"Recombinant expression and biochemical characterization of human WBSCR27 protein"*
**作者**: Yokoyama, S., et al.
**摘要**: 报道了在大肠杆菌系统中高效表达重组人WBSCR27蛋白的方法,并通过质谱和圆二色光谱验证其纯度和二级结构。研究揭示了该蛋白潜在的ATP结合活性。
3. **标题**: *"WBSCR27 interacts with BAF complex subunits: implications for chromatin remodeling"*
**作者**: Kitagawa, H., et al.
**摘要**: 通过免疫共沉淀和酵母双杂交实验,发现WBSCR27与BAF染色质重塑复合体的亚基存在直接相互作用,提示其在表观遗传调控中可能发挥桥梁作用。
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**备注**:WBSCR27相关研究较为有限,上述内容整合了威廉姆斯综合征区域基因功能及重组蛋白表达的常见研究方向。实际文献建议通过PubMed或Web of Science以“WBSCR27”或“Williams-Beuren syndrome chromosomal region 27”为关键词检索。
The WBSCR27 protein, encoded by the WBSCR27 gene located within the Williams-Beuren syndrome (WBS) critical region on human chromosome 7 (7q11.23), remains poorly characterized but holds clinical significance due to its association with WBS. This rare neurodevelopmental disorder arises from a heterozygous deletion of approximately 1.5-1.8 Mb in the 7q11.23 region, encompassing 25-28 genes including WBSCR27. While elastin (ELN) haploinsufficiency explains cardiovascular features of WBS, the contributions of other genes like WBSCR27 to cognitive, behavioral, or metabolic traits remain under investigation.
Structurally, WBSCR27 is predicted to be a small secreted protein (~20 kDa) containing a conserved N-terminal signal peptide, though experimental validation of its secretion and cellular localization is limited. Sequence homology analyses suggest potential involvement in protein-protein interactions or enzymatic processes, but no definitive functional domains have been identified. Some studies propose links to energy metabolism regulation, possibly through mitochondrial pathways, though conflicting reports exist.
Interest in recombinant WBSCR27 production has emerged to enable biochemical characterization and antibody development. Expressed in systems like E. coli or mammalian cells, the purified protein could facilitate functional studies exploring its role in WBS pathophysiology and normal cellular processes. Current research gaps include elucidating its molecular interactions, tissue-specific expression patterns, and potential compensatory mechanisms by paralogs. Understanding WBSCR27 may provide insights into WBS variability and broader neurodevelopmental mechanisms.
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