| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | FKTN |
| Uniprot No | O75072 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-461aa |
| 氨基酸序列 | MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGF DSTQWRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQ CKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGI DSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFV PFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIEC RYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSG TCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVE DSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLC WTEFVDMKVHVPCETLEYIEANYGKTWKIPVKTWDWKRSPPNVQPNGIWP ISEWDEVIQLY |
| 预测分子量 | 57 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FKTN重组蛋白的3-4篇文献示例(内容为模拟，仅供参考)：
1. **文献名称**：*"Expression and Functional Characterization of Recombinant Fukutin in a Mammalian Cell System"*
**作者**：Yamada H, et al.
**摘要**：研究利用哺乳动物表达系统成功表达并纯化FKTN重组蛋白，证实其参与α-dystroglycan的糖基化修饰，并通过体外实验验证了其酶活性缺失与肌营养不良症的相关性。
2. **文献名称**：*"Structural Analysis of Fukutin Using Recombinant Protein Crystallography"*
**作者**：Chen L, et al.
**摘要**：通过重组表达人源FKTN蛋白并进行结晶分析，揭示了其关键功能域的三维结构，为理解FKTN突变导致的功能异常提供了结构生物学基础。
3. **文献名称**：*"Recombinant Fukutin Production in Insect Cells and Its Role in Glycosylation Pathways"*
**作者**：Müller U, et al.
**摘要**：在昆虫细胞中高效表达FKTN重组蛋白，证明其与糖基转移酶复合物的相互作用，并阐明了其在先天性肌营养不良症中调节糖链合成的分子机制。
4. **文献名称**：*"In Vitro Reconstitution of Fukutin-Dependent Glycosylation Using Purified Recombinant Protein"*
**作者**：Kuwabara N, et al.
**摘要**：通过纯化的FKTN重组蛋白重建体外糖基化反应体系，直接验证了FKTN在α-dystroglycan修饰中的催化功能，为疾病治疗靶点开发提供依据。
(注：上述文献为示例性内容，实际引用需以真实发表的论文为准。)
FKTN (fukutin) is a protein encoded by the *FKTN* gene, which plays a critical role in glycosylation pathways essential for muscle membrane integrity and neurological function. Mutations in *FKTN* are associated with Fukuyama congenital muscular dystrophy (FCMD), a severe autosomal recessive disorder characterized by progressive muscle weakness, brain abnormalities, and impaired motor development. FKTN is involved in the post-translational modification of α-dystroglycan, a key component of the dystrophin-glycoprotein complex that stabilizes muscle cells during contraction. Specifically, FKTN facilitates the transfer of ribitol-phosphate moieties to α-dystroglycan, enabling its functional glycosylation and interaction with extracellular matrix proteins like laminin. Defective glycosylation disrupts this interaction, leading to muscle degeneration and neurological defects.
Recombinant FKTN proteins are engineered in vitro to study its biochemical properties, disease mechanisms, or potential therapeutic applications. These proteins are typically produced using heterologous expression systems (e.g., mammalian, insect, or yeast cells) to ensure proper post-translational modifications. Recombinant FKTN enables researchers to investigate its enzymatic activity, structural domains, and interactions with other molecules in controlled settings. It also serves as a tool for developing gene therapies or enzyme replacement strategies for FCMD. However, challenges remain in achieving functional equivalence to native FKTN due to its complex glycosylation requirements. Current research focuses on optimizing expression systems and delivery methods to enhance therapeutic efficacy. Beyond FCMD, recombinant FKTN contributes to broader studies on muscular dystrophies and glycosylation disorders, offering insights into disease biomarkers and targeted interventions.
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