| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | LCA5 |
| Uniprot No | Q86VQ0 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-697aa |
| 活性数据 | MGERAGSPGTDQEREAGKHHYSYSSDFETPQSSGRSSLVSSSPASVRRKNPKRQTSDGQVHHQAPRKPSPKGLPNRKGVRVGFRSQSLNREPLRKDTDLVTKRILSARLLKINELQNEVSELQVKLAELLKENKSLKRLQYRQEKALNKFEDAENEISQLIFRHNNEITALKERLRKSQEKERATEKRVKDTESELFRTKFSLQKLKEISEARHLPERDDLAKKLVSAELKLDDTERRIKELSKNLELSTNSFQRQLLAERKRAYEAHDENKVLQKEVQRLYHKLKEKERELDIKNIYSNRLPKSSPNKEKELALRKNAACQSDFADLCTKGVQTMEDFKPEEYPLTPETIMCYENKWEEPGHLTLDLQSQKQDRHGEAGILNPIMEREEKFVTDEELHVVKQEVEKLEDEWEREELDKKQKEKASLLEREEKPEWETGRYQLGMYPIQNMDKLQGEEEERLKREMLLAKLNEIDRELQDSRNLKYPVLPLLPDFESKLHSRERSPKTYRFSESSERLFNGHHLQDISFSTPKGEGQNSGNVRSPASPNEFAFGSYVPSFAKTSERSNPFSQKSSFLDFQRNSMEKLSKDGVDLITRKEKKANLMEQLFGASGSSTISSKSSGPNSVASSKGDIDPLNFLPGNKGSRDQEHDEDEGFFLSEGRSFNPNRHRLKHADDKPAVKAADSVEDEIEEVALR |
| 分子量 | 106.9 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. |
以下是与重组人LCA5蛋白相关的3-4篇文献概览：
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1. **标题**：*Mutations in LCA5 are a frequent cause of Leber congenital amaurosis*
**作者**：van Huet RAC et al.
**摘要**：该研究首次报告LCA5基因突变与Leber先天性黑蒙症(LCA)的关联，通过外显子测序在患者中发现致病突变。研究阐明了LCA5蛋白在纤毛结构中的关键作用，并通过体外重组蛋白表达验证其功能缺失导致光感受器变性。
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2. **标题**：*LCA5 encodes a ciliary protein involved in photoreceptor maintenance*
**作者**：Dharmaraj S et al.
**摘要**：文章构建了重组人LCA5蛋白模型，证明其在维持光感受器细胞纤毛运输中的功能。通过基因编辑敲除小鼠模型，发现LCA5缺失导致视网膜退化，并探索了AAV介导的基因治疗恢复视觉功能的潜在途径。
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3. **标题**：*Functional interaction between LCA5 and CEP290 in photoreceptor cells*
**作者**：Zhao Y et al.
**摘要**：研究发现重组人LCA5蛋白与CEP290在视网膜中形成复合物，共同参与纤毛运输和光信号传导。通过免疫共沉淀和质谱分析，揭示了LCA5突变如何破坏这一相互作用，导致视网膜病变的分子机制。
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4. **标题**：*Clinical and genetic spectrum of LCA5-related retinal dystrophy*
**作者**：Estrada-Cuzcano A et al.
**摘要**：研究通过分析LCA5突变患者队列，总结了基因型与临床表型的关联，并利用重组蛋白实验验证多个突变对蛋白稳定性的影响，为精准诊断和治疗提供了依据。
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这些文献涵盖LCA5的致病机制、分子互作及治疗探索，可为相关研究提供基础支持。
The leucine-rich repeat-containing protein LCA5 (LCA5), also known as lebercilin, is a ciliary protein crucial for photoreceptor function and retinal development. It is primarily associated with Leber congenital amaurosis (LCA), a severe inherited retinal dystrophy causing childhood blindness. Mutations in the *LCA5* gene disrupt the formation or stability of the connecting cilium in photoreceptors, impairing protein trafficking between the inner and outer segments. This leads to photoreceptor degeneration and vision loss. LCA5 contains coiled-coil domains and interacts with other ciliary proteins like RPGR and CEP290. suggesting its role in maintaining cilium integrity and intracellular transport.
Recombinant human LCA5 protein is engineered using expression systems (e.g., *E. coli* or mammalian cells) to study its structure, function, and disease mechanisms. It serves as a tool for investigating LCA5-associated pathways, protein-protein interactions, and therapeutic strategies, including gene therapy or small-molecule interventions. Researchers utilize it to model LCA in vitro, screen potential drugs, or develop targeted therapies. Purified recombinant LCA5 often includes tags (e.g., His-tag) for detection and isolation. Its study is vital for understanding retinal ciliopathies and advancing treatments for inherited blindness. Current research focuses on restoring LCA5 function through gene replacement or CRISPR-based editing, highlighting its therapeutic potential.
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