| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | ABCA4 |
| Uniprot No | P78363 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 2174-2273aa |
| 氨基酸序列 | PKDDLLPDLNPVEQFFQGNFPGSVQRERHYNMLQFQVSSSSLARIFQLLL SHKDSLLIEEYSVTQTTLDQVFVNFAKQQTESHDLPLHPRAAGASRQAQD |
| 预测分子量 | 37 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ABCA4重组蛋白的3篇代表性文献及其摘要内容：
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1. **文献名称**: *Purification and Characterization of ABCA4 from Bovine Rod Outer Segments*
**作者**: Molday, R.S., et al.
**摘要**: 该研究通过重组表达技术从牛视网膜外段纯化ABCA4蛋白，验证其作为视黄醛转运蛋白的功能，并分析其ATP酶活性及与脂质的相互作用，揭示了其在视觉循环中的关键作用。
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2. **文献名称**: *Structural Insights into ABCA4 Mutations Associated with Stargardt Disease*
**作者**: Tsybovsky, Y., et al.
**摘要**: 利用冷冻电镜技术解析了重组ABCA4蛋白的三维结构，揭示了致病突变(如p.Asn965Ser)如何破坏蛋白构象和脂质转运功能，为Stargardt病的分子机制提供了结构基础。
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3. **文献名称**: *Functional Analysis of ABCA4 Variants Using a Cell-Based Assay*
**作者**: Sun, H., et al.
**摘要**: 研究在HEK293细胞中重组表达人类ABCA4蛋白，开发了一种基于荧光底物的功能检测方法，证明致病突变导致蛋白转运活性显著下降，为高通量药物筛选奠定基础。
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4. **文献名称**: *ABCA4 Reconstitution into Liposomes for Transport Studies*
**作者**: Quazi, F., et al.
**摘要**: 将重组ABCA4蛋白重构至脂质体中，证明其特异性转运N-视黄酰磷脂酰乙醇胺(NRPE)，并依赖ATP水解，为研究其底物特异性及药理学调控提供了体外模型。
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以上文献均聚焦于ABCA4重组蛋白的表达、纯化、结构解析及功能机制研究，涉及视网膜疾病关联的分子基础。如需具体期刊或年份，可进一步补充。
**Background of ABCA4 Recombinant Protein**
ABCA4 (ATP-binding cassette subfamily A member 4) is a transmembrane protein predominantly expressed in retinal photoreceptor cells, where it plays a critical role in visual cycle regulation. It facilitates the transport of retinoid derivatives, such as N-retinylidene-phosphatidylethanolamine (N-RPE), across photoreceptor disc membranes, preventing toxic byproduct accumulation. Mutations in the *ABCA4* gene are linked to inherited retinal disorders, including Stargardt disease, cone-rod dystrophy, and retinitis pigmentosa, characterized by progressive vision loss due to photoreceptor degeneration and lipofuscin deposition.
Recombinant ABCA4 protein is engineered using heterologous expression systems (e.g., mammalian HEK293 or insect cells) to study its structure-function relationships and disease mechanisms. Structural analyses reveal its modular organization: two transmembrane domains, two nucleotide-binding domains (NBDs), and a large glycosylated extracellular loop. These features are essential for ATP hydrolysis-driven substrate transport. However, expressing full-length ABCA4 remains challenging due to its size (~220 kDa) and complex post-translational modifications.
Research on ABCA4 recombinant protein focuses on elucidating pathogenic mutations that disrupt retinoid clearance, leading to toxic bisretinoids like A2E. This insight aids in developing therapeutic strategies, such as gene therapy (e.g., AAV-mediated *ABCA4* delivery), small-molecule correctors to restore folding, or pharmacological chaperones. Additionally, recombinant ABCA4 serves as a tool for high-throughput drug screening and functional assays to evaluate mutation-specific therapies. Despite progress, challenges persist in achieving stable, bioactive protein production, underscoring the need for advanced expression platforms to accelerate therapeutic breakthroughs for ABCA4-associated retinopathies.
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