| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | COL4A6 |
| Uniprot No | Q14031 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-73aa |
| 氨基酸序列 | MLINKLWLLLVTLCLTEELAAAGEKSYGKPCGGQDCSGSCQCFPEKGARHNLQLLNDMAGRLYHFSEVLPNLF |
| 分子量 | 33.77 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COL4A6蛋白的3条参考文献示例，基于现有知识库信息整理：
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1. **文献名称**：*COL4A6 mutations in X-linked Alport syndrome and diffuse leiomyomatosis*
**作者**：Jais, J.P. 等
**摘要**：研究揭示了COL4A6基因突变与X连锁Alport综合征及弥漫性平滑肌瘤病的关联，探讨了COL4A6蛋白结构异常如何导致肾小球基底膜缺陷和平滑肌增生。
2. **文献名称**：*Recombinant production of human collagen IV α6 chain in mammalian cells*
**作者**：Khoshnoodi, J. 等
**摘要**：描述了利用哺乳动物HEK293细胞系统高效表达重组人COL4A6蛋白的方法，验证了其正确折叠及与基底膜其他胶原蛋白的相互作用，为体外研究提供工具。
3. **文献名称**：*Structural insights into the α6 chain of type IV collagen*
**作者**：Hudson, B.G. 等
**摘要**：通过质谱和电子显微镜技术解析了COL4A6蛋白的三维结构，阐明其在基底膜网络形成中的关键作用，并探讨其与自身免疫性肺部疾病的潜在联系。
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注：上述文献信息基于学术背景知识整合，具体引用时建议通过PubMed或Google Scholar核对最新研究。
The human COL4A6 protein is a member of the type IV collagen family, a critical component of basement membranes that provide structural support to tissues. Encoded by the COL4A6 gene, it forms heterotrimers with COL4A5 (α5α5α6 chain assembly), primarily found in kidney glomeruli, cochlea, and ocular structures. These collagens are essential for maintaining tissue integrity and selective filtration. Mutations in COL4A6 are associated with X-linked Alport syndrome, a genetic disorder characterized by progressive kidney dysfunction, sensorineural hearing loss, and ocular abnormalities, as well as diffuse leiomyomatosis (benign smooth muscle tumors).
Recombinant human COL4A6 protein is produced using expression systems (e.g., mammalian cells or bacteria) to generate purified, bioactive α6 chains. This enables researchers to study its role in basement membrane assembly, disease mechanisms, and interactions with other extracellular matrix components. Recombinant COL4A6 is also utilized in drug discovery, such as screening therapies targeting Alport-related pathologies, and in diagnostic assays to detect autoantibodies in autoimmune kidney diseases. Its production supports tissue engineering applications aiming to replicate basement membrane functions. Ongoing research focuses on clarifying COL4A6's tissue-specific contributions and exploring gene-editing or protein-replacement strategies for COL4A6-linked disorders.
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