| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | KIAA1279 |
| Uniprot No | Q96EK5 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-621aa |
| 活性数据 | MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRYRLSHDCISLCIQAQNNLGILWSEREEIETAQAYLESSEALYNQYMKEVGSPPLDPTERFLPEEEKLTEQERSKRFEKVYTHNLYYLAQVYQHLEMFEKAAHYCHSTLKRQLEHNAYHPIEWAINAATLSQFYINKLCFMEARHCLSAANVIFGQTGKISATEDTPEAEGEVPELYHQRKGEIARCWIKYCLTLMQNAQLSMQDNIGELDLDKQSELRALRKKELDEEESIRKKAVQFGTGELCDAISAVEEKVSYLRPLDFEEARELFLLGQHYVFEAKEFFQIDGYVTDHIEVVQDHSALFKVLAFFETDMERRCKMHKRRIAMLEPLTVDLNPQYYLLVNRQIQFEIAHAYYDMMDLKVAIADRLRDPDSHIVKKINNLNKSALKYYQLFLDSLRDPNKVFPEHIGEDVLRPAMLAKFRVARLYGKIITADPKKELENLATSLEHYKFIVDYCEKHPEAAQEIEVELELSKEMVSLLPTKMERFRTKMALT |
| 分子量 | 98.2 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. |
以下是关于重组人KIAA1279蛋白的3篇参考文献示例(注：部分文献信息为模拟内容，实际研究中需通过学术数据库验证)：
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1. **文献名称**: *KIAA1279 Encodes a Novel Cytoplasmic Protein Involved in Neurodevelopmental Disorders*
**作者**: Brooks, A.S., et al. (2010)
**摘要**: 本研究揭示了KIAA1279蛋白在神经发育中的关键作用，发现其缺失导致突触形成异常。通过重组人KIAA1279蛋白的体外表达，作者证明其能够恢复神经元细胞的轴突导向功能突变表型，提示其在神经系统疾病中的潜在机制。
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2. **文献名称**: *Structural and Functional Characterization of the KIAA1279 Protein Complex*
**作者**: Chen, L., et al. (2015)
**摘要**: 研究利用重组人KIAA1279蛋白进行X射线晶体学分析，解析了其三维结构，并发现其C端结构域与微管结合蛋白相互作用，可能通过调节细胞骨架动态影响早期大脑发育。
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3. **文献名称**: *KIAA1279 Interactome Analysis Reveals Its Role in Golgi Organization*
**作者**: Saito, M., et al. (2018)
**摘要**: 通过重组蛋白纯化和质谱分析，作者鉴定了KIAA1279在高尔基体相关蛋白网络中的互作伴侣，表明其参与维持高尔基体完整性，并可能与囊泡运输的调控相关。
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**注意**：以上文献标题与摘要为综合领域知识的模拟内容，实际文献检索建议通过PubMed、Web of Science等平台以“KIAA1279”、“recombinant protein”等关键词查询最新研究。如需具体文献，可补充说明研究方向(如结构、疾病关联等)以进一步筛选。
Recombinant human KIAA1279 protein is a genetically engineered variant of the KIAA1279 gene product, also known as C12ORF4 or RUFY3. located on chromosome 12. This cytosolic protein is implicated in cellular processes such as intracellular vesicle trafficking, cell adhesion, and neural development. Structurally, it contains conserved coiled-coil domains and intrinsically disordered regions, enabling interactions with signaling molecules and cytoskeletal components. KIAA1279 gained attention due to its role in Goldberg-Shprintzen syndrome (GOSHS), a rare genetic disorder characterized by intellectual disability, microcephaly, and enteric nervous system defects. Mutations in the KIAA1279 gene disrupt its function, impairing neurite outgrowth, neuronal migration, and cell-cell adhesion during development. Recombinant KIAA1279 is typically expressed in bacterial or mammalian systems for functional studies, aiding in elucidating its molecular mechanisms in neurodevelopment and disease. Current research focuses on its interaction partners (e.g., small GTPases, cytoskeletal regulators) and potential involvement in autophagy and vesicular transport pathways. Its recombinant form serves as a tool for structural analysis, biochemical assays, and therapeutic exploration for neurodevelopmental disorders. Despite progress, the complete functional landscape and pathophysiological pathways involving KIAA1279 remain under active investigation.
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