| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | ARID1B |
| Uniprot No | Q8NFD5 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1364-1460aa |
| 氨基酸序列 | PPAKRHEGDMYNMQYSSQQQEMYNQYGGSYSGPDRRPIQGQYPYPYSRERMQGPGQIQTHGIPPQMMGGPLQSSSSEGPQQNMWAARNDMPYPYQNR |
| 分子量 | 36.41 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. |
1. **《ARID1B mutations in neurodevelopmental disorders: From genotype to functional mechanisms》**
作者：Hota PK, et al.
摘要：综述了ARID1B基因突变在神经发育障碍(如Coffin-Siris综合征)中的作用，探讨了其在染色质重塑中的分子机制及对突触可塑性的影响。
2. **《Loss of ARID1B promotes oncogenic MET signaling in gastric cancer》**
作者：Lee YS, et al.
摘要：研究揭示ARID1B在胃癌中作为肿瘤抑制因子，其缺失通过激活MET信号通路促进肿瘤侵袭和转移，提出靶向MET的潜在治疗策略。
3. **《ARID1B regulates the transcriptional network of neuronal differentiation》**
作者：Vasileiou G, et al.
摘要：通过单细胞测序分析，发现ARID1B通过调控神经分化相关基因(如NeuroD1)的表观遗传修饰，影响皮层神经元的分化和迁移。
4. **《ARID1B haploinsufficiency causes epileptic encephalopathy with cerebellar malformations in mice》**
作者：Shibutani ST, et al.
摘要：建立小鼠模型证明ARID1B单倍剂量不足导致小脑发育异常和癫痫性脑病，揭示了该基因对小脑颗粒细胞增殖的关键调控作用。
(注：以上为模拟文献示例，实际引用需核实最新具体文献。)
ARID1B (AT-rich interaction domain-containing protein 1B) is a critical subunit of the BAF (BRG1/BRM-associated factor) complex, a key chromatin remodeling machinery involved in regulating gene expression through ATP-dependent nucleosome repositioning. Encoded by the *ARID1B* gene located on chromosome 6q25.3. this protein contains a conserved N-terminal ARID domain that binds AT-rich DNA sequences, facilitating chromatin targeting and transcriptional regulation. ARID1B plays essential roles in embryonic development, neurogenesis, and cellular differentiation by modulating chromatin accessibility for transcription factors.
Mutations in *ARID1B* are strongly associated with neurodevelopmental disorders, including Coffin-Siris syndrome (characterized by intellectual disability, developmental delays, and distinct facial features) and autism spectrum disorder. Most pathogenic variants are de novo loss-of-function mutations, leading to haploinsufficiency. ARID1B dysfunction also contributes to cancer; it can act as a tumor suppressor in some contexts (e.g., gliomas), while paradoxically promoting tumorigenesis in others (e.g., gastric cancers). Research continues to explore its dual roles in cancer, epigenetic regulation, and interactions with other chromatin remodelers. Current studies aim to unravel tissue-specific mechanisms and therapeutic potential, particularly for ARID1B-linked developmental disorders.
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