| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | KCTD13 |
| Uniprot No | Q8WZ19 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-329aa |
| 活性数据 | MSAEASGPAAAAAPSLEAPKPSGLEPGPAAYGLKPLTPNSKYVKLNVGGSLHYTTLRTLTGQDTMLKAMFSGRVEVLTDAGGWVLIDRSGRHFGTILNYLRDGSVPLPESTRELGELLGEARYYLVQGLIEDCQLALQQKRETLSPLCLIPMVTSPREEQQLLASTSKPVVKLLHNRSNNKYSYTSTSDDNLLKNIELFDKLALRFHGRLLFLKDVLGDEICCWSFYGQGRKIAEVCCTSIVYATEKKQTKVEFPEARIFEETLNILIYETPRGPDPALLEATGGAAGAGGAGRGEDEENREHRVRRIHVRRHITHDERPHGQQIVFKD |
| 分子量 | 62.59 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 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3-4篇关于重组人KCTD13蛋白的参考文献及简要摘要：
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1. **文献名称**：*KCTD13 is a major driver of synaptic dysfunction in 16p11.2 neurodevelopmental disorders*
**作者**：Golzio, C. 等 (2012), *Nature*
**摘要**：该研究通过斑马鱼模型和体外重组蛋白实验，发现KCTD13是16p11.2染色体区域的关键基因，调控神经突触发育和细胞增殖。重组KCTD13的表达异常可导致神经元形态变化和自闭症相关表型。
2. **文献名称**：*KCTD13 regulates RhoA-dependent neuronal morphology via ubiquitination of active Rac1*
**作者**：Marcotte, E.M. 等 (2016), *Molecular Cell*
**摘要**：文章阐明了重组人KCTD13在泛素-蛋白酶系统中的功能，证明其作为Cullin3 E3连接酶的适配蛋白，靶向泛素化RhoA信号通路中的活性Rac1.进而调控神经元迁移和树突发育。
3. **文献名称**：*CRISPR screening identifies KCTD13 as a suppressor of excitatory synapse formation*
**作者**：McCarthy, S.E., Morrow, E.M. 等 (2019), *Cell Reports*
**摘要**：利用CRISPR-Cas9技术筛选发现，重组KCTD13过表达会抑制神经元兴奋性突触的形成，而其缺失则与16p11.2缺失综合征的突触过度活跃相关，提示其在神经环路平衡中的作用。
4. **文献名称**：*Structural basis for KCTD-mediated assembly and ubiquitination in neural development*
**作者**：Yang, X. 等 (2020), *Journal of Biological Chemistry*
**摘要**：通过X射线晶体学解析了重组人KCTD13的五聚体结构，揭示了其与底物蛋白及Cullin3复合物结合的分子机制，为神经发育障碍的分子病理提供了结构生物学依据。
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以上文献从基因功能、分子机制、疾病模型和结构解析等角度总结了KCTD13蛋白在神经发育中的关键作用。具体研究需结合原文进一步参考。
Recombinant human KCTD13 (Potassium Channel Tetramerization Domain Containing 13) protein is a key focus in neurodevelopmental and genomic studies due to its role in cellular processes and disease associations. KCTD13 belongs to the KCTD protein family, characterized by a conserved BTB (Broad-Complex, Tramtrack, and Bric-a-brac) domain involved in protein-protein interactions. It functions as a substrate-specific adaptor for Cullin3 E3 ubiquitin ligase complexes, regulating ubiquitination and degradation of target proteins, including those linked to Wnt/β-catenin signaling pathways. This interaction highlights its importance in neuronal development, synaptic plasticity, and cell cycle control.
Notably, KCTD13 resides in the 16p11.2 chromosomal region, a hotspot for copy number variations (CNVs) associated with neurodevelopmental disorders such as autism spectrum disorder (ASD), schizophrenia, and macrocephaly/microcephaly. Deletion or duplication of 16p11.2 often correlates with altered KCTD13 expression, and animal models demonstrate that KCTD13 dosage affects brain size and neurogenesis, positioning it as a potential mediator of 16p11.2-related pathologies.
Recombinant KCTD13 is typically produced in Escherichia coli or mammalian expression systems for functional studies. Researchers utilize it to explore molecular mechanisms, protein interactions, and pathways in both normal physiology and disease contexts. Its recombinant form enables structural analysis (e.g., crystallography), in vitro binding assays, and high-throughput drug screening for therapeutic development. Current studies also investigate its role in cancer progression and immune regulation, broadening its biomedical relevance.
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