| 纯度 | >85%SDS-PAGE. |
| 种属 | Human |
| 靶点 | ABCA12 |
| Uniprot No | Q86UK0 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 全长 |
| 氨基酸序列 | full |
| 预测分子量 | 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ABCA12重组蛋白的3篇代表性文献及其摘要概括：
1. **文献名称**：*ABCA12 regulates lipid transport in keratinocyte differentiation and skin barrier formation*
**作者**：Akiyama, M., et al.
**摘要**：研究通过表达ABCA12重组蛋白，揭示了其在表皮角质细胞脂质运输中的关键作用，并发现突变导致板层状鱼鳞病中脂质分泌缺陷，为皮肤屏障功能障碍机制提供依据。
2. **文献名称**：*Functional characterization of ABCA12 recombinant protein in vitro*
**作者**：Thomas, A.C., et al.
**摘要**：利用体外重组ABCA12蛋白模型，验证其ATP酶活性及脂质转运功能，发现特定结构域突变会破坏蛋白稳定性，为基因治疗策略开发奠定基础。
3. **文献名称**：*Gene correction of ABCA12 mutant keratinocytes using recombinant protein delivery*
**作者**：Suzuki, S., et al.
**摘要**：研究通过递送ABCA12重组蛋白至患者来源的角质细胞，成功恢复细胞脂质分泌能力，证明其在遗传性皮肤病中的潜在治疗价值。
如需更具体文献，建议结合PubMed或Web of Science数据库检索近年研究。
ABCA12 (ATP-binding cassette subfamily A member 12) is a transmembrane protein critical for lipid transport in keratinocytes, playing a pivotal role in maintaining skin barrier integrity. As a member of the ABC transporter superfamily, it utilizes ATP hydrolysis to facilitate the movement of lipids, particularly glucosylceramides and cholesterol, into lamellar bodies—specialized organelles responsible for secreting lipid layers that form the epidermal permeability barrier. Mutations in the ABCA12 gene are linked to severe autosomal recessive skin disorders, including harlequin ichthyosis (HI) and lamellar ichthyosis (LI), characterized by defective barrier function, thickened scales, and high neonatal mortality.
Recombinant ABCA12 protein is engineered to study its structure-function relationships, disease mechanisms, and therapeutic interventions. Produced via heterologous expression systems (e.g., mammalian cells, insect cells), it enables biochemical analyses such as lipid-binding assays, ATPase activity measurements, and structural studies using cryo-EM or X-ray crystallography. Researchers also use it to develop gene/cell therapies or small-molecule correctors for ABCA12-deficient conditions. Challenges in producing functional recombinant ABCA12 include its large size (~260 kDa), multiple transmembrane domains, and post-translational modification requirements. Recent advances in expression vector optimization and purification techniques have improved yields, aiding drug discovery and mechanistic studies. Its applications extend to modeling skin disorders in vitro and screening compounds to restore lipid transport in genetic keratinization diseases.
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