| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | GJb1 |
| Uniprot No | P08034 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-283aa |
| 氨基酸序列 | MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLSPEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC |
| 预测分子量 | 32 kDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300. |
| 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GJb1(Connexin 32)重组蛋白的3篇代表性文献摘要概括：
1. **《Functional analysis of GJB1 mutations associated with X-linked Charcot-Marie-Tooth disease》**
- **作者**：Scherer SS, et al.
- **摘要**：研究利用重组表达的GJb1蛋白(Connexin 32)分析其突变体在细胞间通讯中的功能。发现部分突变导致间隙连接通道形成障碍，揭示了CMT疾病中神经传导异常的分子机制。
2. **《Expression and purification of recombinant human Connexin 32 in mammalian cells》**
- **作者**：Kleopa KA, et al.
- **摘要**：报道了一种在哺乳动物细胞中高效表达和纯化重组GJb1蛋白的方法，并验证其结构与天然蛋白的一致性，为后续功能研究和药物筛选提供可靠工具。
3. **《Altered trafficking and stability of GJB1 mutants in demyelinating neuropathies》**
- **作者**：Yum SW, et al.
- **摘要**：通过重组蛋白技术研究GJb1突变体的细胞内运输和稳定性，发现部分突变体因错误折叠被蛋白酶体降解，提示蛋白质量控制机制异常在CMT发病中的作用。
4. **《Structural insights into Connexin 32 gap junction channels by cryo-EM》**
- **作者**：Maeda S, et al.
- **摘要**：利用冷冻电镜解析重组GJb1蛋白的高分辨率结构，揭示了通道开闭的分子基础，并探讨了疾病相关突变对通道构象的影响。
这些文献涵盖GJb1重组蛋白的功能研究、表达技术、疾病机制及结构分析，可为相关研究提供参考。
**Background of GJB1 Recombinant Protein**
GJB1 (gap junction protein beta 1), also known as connexin 32 (Cx32), is a transmembrane protein encoded by the *GJB1* gene. It belongs to the connexin family, which forms gap junctions—specialized intercellular channels facilitating direct communication between adjacent cells by allowing the exchange of ions, metabolites, and signaling molecules. Cx32 is predominantly expressed in myelinating Schwann cells of the peripheral nervous system (PNS) and in liver hepatocytes.
Mutations in the *GJB1* gene are linked to X-linked Charcot-Marie-Tooth disease (CMTX1), a common hereditary neuropathy characterized by progressive muscle weakness, sensory loss, and demyelination. Over 400 pathogenic variants (e.g., missense, frameshift) disrupt Cx32 function, impairing gap junction-mediated communication between Schwann cells and compromising axon myelination. This leads to slowed nerve conduction and neurodegeneration.
Recombinant GJB1 protein is produced using biotechnological systems (e.g., *E. coli*, mammalian cells) to express and purify functional Cx32 for research. It enables mechanistic studies, such as analyzing how mutations alter channel assembly, trafficking, or permeability. Recombinant Cx32 is also used to develop cellular or animal models of CMTX1. screen potential therapeutics, and generate antibodies for diagnostic assays.
Current research focuses on understanding genotype-phenotype correlations in CMTX1 and testing strategies to rescue mutant Cx32 function, including pharmacological chaperones or gene therapy. However, challenges remain in replicating the complex pathophysiology of CMTX1 *in vitro* and ensuring clinical translatability. Overall, GJB1 recombinant protein serves as a critical tool for unraveling disease mechanisms and advancing targeted therapies for CMTX1.
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