| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | EFHC1 |
| Uniprot No | Q5JVL4 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-640aa |
| 氨基酸序列 | MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQAELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQVNIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKTFRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDKQVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGIDPFPLLMNRQRVPKVLVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFGITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVLRYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVDNPVYYGPSDFFIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREAPAPEAESKQTEKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFFKICESLNVPVDDSLVKELLRMCSHGEGKINYYNFVRAFSN |
| 分子量 | 100.3 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. |
1. **"EFHC1 interacts with microtubule- and centrosome-associated proteins and regulates mitotic spindle formation"**
- Authors: Suzuki et al.
- 摘要：研究了重组人EFHC1蛋白与微管及中心体蛋白的相互作用，发现其通过调控纺锤体形成影响神经细胞分裂，可能与癫痫相关的神经元迁移障碍相关。
2. **"Mutations in EFHC1 cause juvenile myoclonic epilepsy by altering GABA receptor trafficking"**
- Authors: Medina et al.
- 摘要：通过重组EFHC1蛋白功能实验，揭示了该蛋白突变通过干扰GABA受体运输导致癫痫发作的分子机制，强调其在中枢抑制性信号中的作用。
3. **"EFHC1 promotes apoptosis by enhancing mitochondrial calcium uptake in neurons"**
- Authors: de Nijs et al.
- 摘要：发现重组EFHC1蛋白通过增强线粒体钙离子摄取，激活神经元凋亡通路，提示其在神经退行性疾病及癫痫中的潜在病理作用。
4. **"Structural and functional analysis of EFHC1 in ciliogenesis and epileptogenesis"**
- Authors: Toledo et al.
- 摘要：解析了重组EFHC1蛋白的结构特征，证明其通过调控纤毛形成影响脑发育异常，并与遗传性癫痫综合征的致病突变密切相关。
(注：以上文献信息为模拟生成，实际研究中需通过PubMed或Google Scholar以关键词“EFHC1 recombinant protein”核实具体文献。)
Recombinant human EFHC1 protein is derived from the EF-hand domain-containing protein 1 (EFHC1) gene, which encodes a calcium-binding protein predominantly expressed in neurons. EFHC1 contains three EF-hand motifs, suggesting its role in calcium signaling regulation. It interacts with microtubule-associated proteins and voltage-gated calcium channels, implicating it in neuronal development, synaptic function, and apoptosis. Mutations in the EFHC1 gene are linked to juvenile myoclonic epilepsy (JME) and other idiopathic generalized epilepsies, though the precise molecular mechanisms remain unclear. Studies propose that EFHC1 may modulate neuronal excitability by influencing calcium-dependent processes or apoptosis pathways.
Recombinant EFHC1 is produced using expression systems like E. coli, insect cells, or mammalian cells, enabling in vitro studies of its structure, interactions, and pathogenic variants. This tool aids in elucidating EFHC1’s physiological roles, its involvement in epileptogenesis, and the functional impact of disease-associated mutations. Research utilizing recombinant EFHC1 has contributed to understanding its potential as a biomarker or therapeutic target for epilepsy. However, contradictory findings regarding its subcellular localization and function highlight the need for further exploration. Overall, recombinant EFHC1 serves as a critical resource for advancing molecular neurology and translational research in epilepsy.
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