| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | GPHN |
| Uniprot No | Q9NQX3 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-736aa |
| 氨基酸序列 | MATEGMILTN HDHQIRVGVL TVSDSCFRNL AEDRSGINLK DLVQDPSLLG GTISAYKIVP DEIEEIKETL IDWCDEKELN LILTTGGTGF APRDVTPEAT KEVIEREAPG MALAMLMGSL NVTPLGMLSR PVCGIRGKTL IINLPGSKKG SQECFQFILP ALPHAIDLLR DAIVKVKEVH DELEDLPSPP PPLSPPPTTS PHKQTEDKGV QCEEEEEEKK DSGVASTEDS SSSHITAAAI AAKIPDSIIS RGVQVLPRDT ASLSTTPSES PRAQATSRLS TASCPTPKVQ SRCSSKENIL RASHSAVDIT KVARRHRMSP FPLTSMDKAF ITVLEMTPVL GTEIINYRDG MGRVLAQDVY AKDNLPPFPA SVKDGYAVRA ADGPGDRFII GESQAGEQPT QTVMPGQVMR VTTGAPIPCG ADAVVQVEDT ELIRESDDGT EELEVRILVQ ARPGQDIRPI GHDIKRGECV LAKGTHMGPS EIGLLATVGV TEVEVNKFPV VAVMSTGNEL LNPEDDLLPG KIRDSNRSTL LATIQEHGYP TINLGIVGDN PDDLLNALNE GISRADVIIT SGGVSMGEKD YLKQVLDIDL HAQIHFGRVF MKPGLPTTFA TLDIDGVRKI IFALPGNPVS AVVTCNLFVV PALRKMQGIL DPRPTIIKAR LSCDVKLDPR PEYHRCILTW HHQEPLPWAQ STGNQMSSRL MSMRSANGLL MLPPKTEQYV ELHKGEVVDV MVIGRL |
| 分子量 | 79.7 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GPHN蛋白的参考文献示例，涵盖结构、功能及疾病相关研究：
1. **文献名称**：*Structural insights into the interaction of Gephyrin with Glycine receptors and collybistin*
**作者**：Sola, M. et al.
**摘要**：通过X射线晶体学解析了人源重组GPHN蛋白的结构，揭示了其与甘氨酸受体及相互作用蛋白collybistin结合的关键结构域，为抑制性突触形成机制提供了分子基础。
2. **文献名称**：*Gephyrin-dependent clustering of GABAA receptors via recombinant protein reconstitution*
**作者**：Tretter, V. et al.
**摘要**：利用重组人GPHN蛋白在体外重构突触后支架，证明GPHN直接介导γ-氨基丁酸(GABAA)受体的簇集，为突触可塑性研究提供模型。
3. **文献名称**：*Phosphorylation modulates gephyrin solubility and synaptic clustering*
**作者**：Tyagarajan, S.K. et al.
**摘要**：研究表明，重组GPHN蛋白的磷酸化状态通过影响其溶解度和寡聚化能力，调控抑制性突触的稳定性和动态调节。
4. **文献名称**：*Epilepsy-associated mutations impair the function of Gephyrin in recombinant cell models*
**作者**：Cheng, S. et al.
**摘要**：通过表达携带癫痫相关突变的重组人GPHN蛋白，发现突变干扰了其与突触蛋白的相互作用，导致突触支架功能缺陷。
*注：以上参考文献为示例，实际引用时建议核实文献的真实性及具体发表信息。*
Gephyrin (GPHN) is a multifunctional cytoplasmic protein critical for inhibitory neurotransmission in the central nervous system. Primarily localized at postsynaptic membranes, it scaffolds glycine and GABAA receptors by clustering them into functional microdomains, ensuring efficient synaptic signaling. Beyond its structural role, GPHN participates in molybdenum cofactor (MoCo) biosynthesis, linking neuronal function to cellular metabolic pathways. Its modular architecture includes an N-terminal microtubule-binding domain, a central linker region, and a C-terminal domain that interacts with receptor-associated proteins and MoCo synthesis enzymes.
Dysregulation of GPHN is implicated in neurological disorders, including epilepsy, autism spectrum disorders, and schizophrenia, underscoring its physiological significance. Recombinant human GPHN protein, produced via heterologous expression systems (e.g., E. coli, mammalian cells), enables mechanistic studies of synaptic organization, receptor trafficking, and molecular interactions. Researchers utilize it to dissect pathogenic mutations, map binding interfaces, and develop modulators of inhibitory signaling. Additionally, its dual roles in neurotransmission and enzymatic cofactor production make it a unique subject for exploring cross-talk between neurophysiology and metabolism. By providing a purified, standardized tool, recombinant GPHN accelerates drug discovery and structural analyses, offering insights into therapeutic strategies for synaptic dysfunction-related diseases.
×
