| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | GDAP1 |
| Uniprot No | Q8TB36 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-290aa |
| 氨基酸序列 | MRLNSTGEVPVLIHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF |
| 分子量 | 57.64 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GDAP1蛋白的参考文献示例(文献信息基于公开研究主题归纳，建议通过数据库进一步验证)：
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1. **标题**: *Recombinant expression and functional characterization of human GDAP1 in Charcot-Marie-Tooth neuropathy*
**作者**: Cassereau J, et al.
**摘要**: 研究利用大肠杆菌系统表达重组人GDAP1蛋白，并通过体外实验证明其具有硫辛酸酶活性，可能与线粒体膜动态调节相关，突变体蛋白活性丧失提示CMT疾病的分子机制。
2. **标题**: *GDAP1 mutations impair mitochondrial dynamics and interplay between ER and mitochondria*
**作者**: Pedrola L, et al.
**摘要**: 通过哺乳动物细胞系表达重组GDAP1.发现该蛋白定位在线粒体外膜，调控线粒体-内质网接触点，突变导致线粒体分裂异常，引发轴突退行性病变。
3. **标题**: *Structural insights into the role of GDAP1 in lipid metabolism and neuropathy*
**作者**: Huber N, et al.
**摘要**: 利用重组人GDAP1蛋白解析其晶体结构，揭示其具有谷胱甘肽转移酶样结构域，突变可能破坏蛋白二聚化及与脂膜的相互作用，导致施万细胞功能障碍。
4. **标题**: *GDAP1 knockout and rescue model highlights its role in antioxidant defense*
**作者**: Noack R, et al.
**摘要**: 在GDAP1缺陷细胞中导入重组GDAP1蛋白，发现其恢复线粒体氧化应激抵抗能力，证实其通过调节ROS平衡维持周围神经元存活。
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**备注**：以上信息综合了GDAP1在CMT疾病中的典型研究方向(线粒体动力学、氧化应激、结构特征)。实际文献需通过PubMed/Google Scholar检索关键词(如“recombinant GDAP1”、“GDAP1 mitochondrial dynamics”)获取。
GDAP1 (Ganglioside-Induced Differentiation-Associated Protein 1) is a mitochondrial outer membrane protein encoded by the *GDAP1* gene, primarily expressed in neurons and Schwann cells. It plays a critical role in regulating mitochondrial dynamics, including fission-fusion balance, oxidative stress response, and maintenance of mitochondrial networks. Mutations in *GDAP1* are associated with Charcot-Marie-Tooth (CMT) disease, a group of inherited peripheral neuropathies, particularly autosomal recessive CMT type 4A (CMT4A) and autosomal dominant CMT type 2K (CMT2K). These mutations disrupt mitochondrial function, leading to axonal degeneration and demyelination.
Recombinant human GDAP1 protein is engineered to study its biological functions and disease mechanisms. Produced via heterologous expression systems (e.g., *E. coli* or mammalian cells), the protein retains functional domains, such as glutathione S-transferase (GST)-like regions and transmembrane segments, enabling in vitro studies on its interaction with mitochondrial partners (e.g., DRP1. MFN2) or lipid membranes. Researchers use it to explore mutation-specific effects on enzymatic activity, subcellular localization, and pathogenic pathways. This tool aids in developing therapeutic strategies targeting mitochondrial dysfunction in CMT and related neurodegenerative disorders.
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