| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | ABCD4 |
| Uniprot No | O14678 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-606aa |
| 氨基酸序列 | MAVAGPAPGAGARPRLDLQFLQRFLQILKVLFPSWSSQNALMFLTLLCLTLLEQFVIYQVGLIPSQYYGVLGNKDLEGFKTLTFLAVMLIVLNSTLKSFDQFTCNLLYVSWRKDLTEHLHRLYFRGRAYYTLNVLRDDIDNPDQRISQDVERFCRQLSSMASKLIISPFTLVYYTYQCFQSTGWLGPVSIFGYFILGTVVNKTLMGPIVMKLVHQEKLEGDFRFKHMQIRVNAEPAAFYRAGHVEHMRTDRRLQRLLQTQRELMSKELWLYIGINTFDYLGSILSYVVIAIPIFSGVYGDLSPAELSTLVSKNAFVCIYLISCFTQLIDLSTTLSDVAGYTHRIGQLRETLLDMSLKSQDCEILGESEWGLDTPPGWPAAEPADTAFLLERVSISAPSSDKPLIKDLSLKISEGQSLLITGNTGTGKTSLLRVLGGLWTSTRGSVQMLTDFGPHGVLFLPQKPFFTDGTLREQVIYPLKEVYPDSGSADDERILRFLELAGLSNLVARTEGLDQQVDWNWYDVLSPGEMQRLSFARLFYLQPKYAVLDEATSALTEEVESELYRIGQQLGMTFISVGHRQSLEKFHSLVLKLCGGGRWELMRIKVE |
| 预测分子量 | 68,5 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ABCD4重组蛋白的3篇参考文献及其摘要概括：
1. **《ABCD4 facilitates lysosomal release of vitamin B12 enabling food vitamin B12 absorption》**
- **作者**: Coelho D, Kim JC, Miousse IR, et al.
- **摘要**: 该研究通过重组ABCD4蛋白表达，揭示其与溶酶体膜蛋白LMBD1的相互作用，证实ABCD4在维生素B12从溶酶体向细胞质转运中的关键作用，并阐明了其在遗传性维生素B12缺乏症中的病理机制。
2. **《Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism》**
- **作者**: Rutsch F, Gailus S, Miousse IR, et al.
- **摘要**: 文章报道了ABCD4基因突变导致遗传性维生素B12代谢紊乱。通过重组蛋白功能实验，发现突变体丧失ATP结合活性，阻碍维生素B12的细胞内运输，为临床诊断提供了分子基础。
3. **《Structural and functional analysis of the ABC transporter ABCD4》**
- **作者**: Hirabayashi Y, Kanai R, Shibata H, et al.
- **摘要**: 利用重组ABCD4蛋白进行结构和生化分析，发现其依赖ATP水解的跨膜转运机制，并鉴定了与维生素B12结合的关键结构域，为靶向药物设计提供了理论依据。
这些研究涵盖了ABCD4的功能机制、疾病关联及结构分析，均涉及重组蛋白技术的应用。
ABCD4 recombinant protein is a biologically engineered form of the ATP-binding cassette (ABC) transporter subfamily D member 4. a critical protein involved in intracellular trafficking and metabolic processes. The ABCD4 gene encodes a transmembrane protein localized primarily in lysosomes and endoplasmic reticulum, where it plays a key role in vitamin B12 (cobalamin) metabolism. Specifically, ABCD4 interacts with the lysosomal membrane protein LMBD1 to facilitate the transport of vitamin B12 from lysosomes into the cytoplasm, a step essential for its conversion into active coenzymes required for mitochondrial fatty acid oxidation and nucleotide synthesis.
Mutations in the ABCD4 gene are linked to inherited metabolic disorders, such as cobalamin deficiency type cblF, characterized by developmental delays, neurological impairments, and hematological abnormalities. Recombinant ABCD4 protein is produced using heterologous expression systems (e.g., mammalian or insect cells) to ensure proper post-translational modifications and functional activity. This engineered protein retains the conserved structural features of ABC transporters, including nucleotide-binding domains (NBDs) and transmembrane domains (TMDs), enabling ATP hydrolysis-driven substrate transport.
Research applications of ABCD4 recombinant protein include elucidating molecular mechanisms of vitamin B12 metabolism, studying disease-associated mutations, and developing therapeutic strategies for cobalamin-related disorders. Its use in in vitro assays aids in screening potential pharmacological chaperones to rescue misfolded ABCD4 variants. Additionally, structural studies using recombinant protein provide insights into conformational dynamics during the transport cycle. Challenges remain in stabilizing the protein’s membrane-associated structure and mimicking its native lipid environment. Nonetheless, ABCD4 recombinant tools are vital for advancing understanding of cellular vitamin trafficking and precision medicine approaches for metabolic diseases.
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