| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | PAFAH1B1 |
| Uniprot No | P43034 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-410 aa |
| 活性数据 | MVLSQRQRDE LNRAIADYLR SNGYEEAYSV FKKEAELDVN EELDKKYAGL LEKKWTSVIR LQKKVMELES KLNEAKEEFT SGGPLGQKRD PKEWIPRPPE KYALSGHRSP VTRVIFHPVF SVMVSASEDA TIKVWDYETG DFERTLKGHT DSVQDISFDH SGKLLASCSA DMTIKLWDFQ GFECIRTMHG HDHNVSSVAI MPNGDHIVSA SRDKTIKMWE VQTGYCVKTF TGHREWVRMV RPNQDGTLIA SCSNDQTVRV WVVATKECKA ELREHEHVVE CISWAPESSY SSISEATGSE TKKSGKPGPF LLSGSRDKTI KMWDVSTGMC LMTLVGHDNW VRGVLFHSGG KFILSCADDK TLRVWDYKNK RCMKTLNAHE HFVTSLDFHK TAPYVVTGSV DQTVKVWECR |
| 分子量 | 46.6 kDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | 0 |
| 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PAFAH1B1（LIS1）蛋白的3篇代表性文献及其摘要概括：
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1. **文献名称**: *"The structure of the AAA+ ATPase region of the dynein-β-propeller complex reveals a putative link between ATP hydrolysis and microtubule sliding"*
**作者**: Hattori, M., et al.
**摘要**: 通过重组表达PAFAH1B1蛋白，结合X射线晶体学分析其与动力蛋白复合物的相互作用，揭示了PAFAH1B1的β-propeller结构域如何调控微管稳定性及神经元迁移机制。
2. **文献名称**: *"Isolation of a Miller-Dieker lissencephaly gene containing G-protein β-subunit-like repeats"*
**作者**: Reiner, O., et al.
**摘要**: 首次克隆了人PAFAH1B1基因，发现其突变与Miller-Dieker综合征（无脑回畸形）相关，并通过重组蛋白实验证明其在脑发育中对神经元迁移的关键调控作用。
3. **文献名称**: *"LIS1 and DCX: Implications for brain development and human disease in relation to microtubules"*
**作者**: Sapir, T., et al.
**摘要**: 研究重组PAFAH1B1与双皮质素（DCX）的相互作用，发现二者通过协同调节微管动力学影响神经元迁移，为神经发育障碍的分子机制提供了新见解。
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这些文献从结构、疾病关联及功能机制层面探讨了PAFAH1B1蛋白的作用，涉及重组蛋白技术在其研究中的应用。具体文献信息建议通过PubMed或Sci-Hub以标题/作者查询获取全文。
PAFAH1B1, also known as Lis1 (Lissencephaly 1), is a crucial protein encoded by the PAFAH1B1 gene located on human chromosome 17p13.3. It functions as a regulatory subunit of the intracellular heterotrimeric Platelet-Activating Factor Acetylhydrolase (PAFAH) complex, which hydrolyzes platelet-activating factor (PAF), a bioactive phospholipid involved in inflammation and neurotransduction. Beyond its enzymatic role, PAFAH1B1 plays a central role in neuronal migration and cortical development during embryogenesis. It interacts with microtubule-associated proteins, such as dynein and dynactin, to regulate microtubule dynamics, nuclear positioning, and intracellular transport, essential for proper brain lamination.
Mutations in PAFAH1B1 are linked to Miller-Dieker syndrome (MDS), a severe neurodevelopmental disorder characterized by lissencephaly (smooth brain surface), cognitive impairment, and epilepsy. Most pathogenic variants are heterozygous deletions or truncating mutations that disrupt the protein’s ability to stabilize the cytoskeleton or coordinate neuronal migration. PAFAH1B1 also interacts with Reelin and DISC1 signaling pathways, further linking it to neurodevelopmental and psychiatric conditions. Its LisH (Lis homology) domain mediates dimerization, while WD40 repeats facilitate protein-protein interactions, underscoring its role as a scaffold in diverse cellular processes. Research continues to explore its involvement in mitosis, organelle transport, and neurodegeneration.
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