| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | AUTS2 |
| Uniprot No | Q8WXX7 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 108-198aa |
| 氨基酸序列 | LKPQERVEKRQTPLTKKKREALTNGLSFHSKKSRLSHPHHYSSDRENDRNLCQHLGKRKKMPKALRQLKPGQNSCRDSDSESASGESKGFH |
| 分子量 | 35.75 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. |
以下为关于AUTS2蛋白的3篇参考文献摘要示例(基于公开研究整理，非实际文献，供参考)：
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1. **文献名称**：*AUTS2 regulates synaptic connectivity in human neurons*
**作者**：Kalscheuer VM, et al.
**摘要**：研究通过CRISPR技术敲除人神经元中的AUTS2基因，发现其缺失导致突触密度降低和神经元活动异常，提示AUTS2在突触形成和神经元网络连接中的关键作用，可能直接关联自闭症病理机制。
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2. **文献名称**：*AUTS2 modulates transcriptional regulation in cortical development*
**作者**：Oksenberg N, Ahituv N.
**摘要**：该研究揭示AUTS2蛋白通过结合Polycomb抑制复合物(PRC1)并调控靶基因(如**RAC1**)的转录，影响小鼠皮层神经元的迁移与分化。此调控机制缺陷可能导致神经发育障碍。
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3. **文献名称**：*Rare AUTS2 variants confer risk for neurodevelopmental disorders*
**作者**：Huang L, et al.
**摘要**：通过对自闭症患者群体进行全外显子测序，发现AUTS2基因的罕见有害变异显著富集，功能分析表明这些变异可能破坏其与TCF4等转录因子的相互作用，进而干扰神经元基因表达网络。
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**提示**：实际文献需通过PubMed/Google Scholar检索关键词(如“AUTS2 autism”“AUTS2 function”)，重点关注以下方向：
- 表观遗传调控(与PRC1/PRC2互作)
- 动物模型行为学与神经解剖学变化
- 人类遗传学(罕见变异与拷贝数变异)
**Background of Recombinant Human Autism Susceptibility Gene 2 Protein (AUTS2)**
AUTS2. located on chromosome 7q22. was initially identified as a candidate gene linked to autism spectrum disorder (ASD) through genomic studies. It encodes a nuclear protein critical for neurodevelopment, with roles in transcriptional regulation, neural migration, and synaptogenesis. AUTS2 is expressed predominantly in the brain, particularly during embryogenesis, suggesting its importance in early brain patterning and neuronal connectivity. Mutations or deletions in AUTS2 are associated not only with ASD but also with intellectual disability, developmental delay, and neuropsychiatric conditions like ADHD and schizophrenia.
The AUTS2 protein contains conserved domains implicated in interactions with transcription factors (e.g., TBP) and chromatin-modifying complexes (e.g., Polycomb repressive complex 1). Recent studies highlight its dual role in activating or repressing gene expression, depending on cellular context. Additionally, AUTS2 regulates the migration and maturation of cortical neurons via cytoskeletal remodeling pathways. Animal models with AUTS2 deficiency exhibit behavioral abnormalities, further underscoring its neurodevelopmental significance. Despite progress, the precise molecular mechanisms remain unclear, driving ongoing research into its role in neuroplasticity, cognition, and potential therapeutic targets for neurodevelopmental disorders.
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