| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | LMBRD1 |
| Uniprot No | Q9NUN5 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-540aa |
| 活性数据 | MATSGAASAELVIGWCIFGLLLLAILAFCWIYVRKYQSRRESEVVSTITAIFSLAIALITSALLPVDIFLVSYMKNQNGTFKDWANANVSRQIEDTVLYGYYTLYSVILFCVFFWIPFVYFYYEEKDDDDTSKCTQIKTALKYTLGFVVICALLLLVGAFVPLNVPNNKNSTEWEKVKSLFEELGSSHGLAALSFSISSLTLIGMLAAITYTAYGMSALPLNLIKGTRSAAYERLENTEDIEEVEQHIQTIKSKSKDGRPLPARDKRALKQFEERLRTLKKRERHLEFIENSWWTKFCGALRPLKIVWGIFFILVALLFVISLFLSNLDKALHSAGIDSGFIIFGANLSNPLNMLLPLLQTVFPLDYILITIIIMYFIFTSMAGIRNIGIWFFWVRLYKIRRGRTRPQALLFLCMILLLIVLHTSYMIYSLAPQYVMYGSQNYLIETNITSDNHKGNSTLSVPKRCDADAPEDQCTVTRTYLFLHKFWFFSAAYYFGNWAFLGVFLIGLIVSCCKGKKSVIEGVDEDSDISDDEPSVYSA |
| 分子量 | 87.8 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LMBRD1蛋白的3条参考文献示例，包含文献名称、作者及简化的摘要内容：
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1. **文献名称**: *"LMBRD1 variants and vitamin B12 metabolism: Molecular mechanisms linked to cobalamin deficiency"*
**作者**: Zhang et al., 2021
**摘要**: 该研究解析了LMBRD1蛋白在细胞内维生素B12转运中的作用，利用重组人LMBRD1蛋白实验验证其与溶酶体释放钴胺素(cobalamin)的功能关联，揭示突变导致甲基丙二酸血症的分子机制。
2. **文献名称**: *"Structural and functional characterization of the LMBRD1 transporter in lysosomal cobalamin export"*
**作者**: Smith et al., 2019
**摘要**: 通过重组表达人源LMBRD1蛋白，结合冷冻电镜技术解析其三维结构，证明其在溶酶体膜上作为维生素B12运输通道的关键功能，并探讨其突变对代谢疾病的影响。
3. **文献名称**: *"Recombinant expression of LMBRD1 in HEK293 cells reveals its role in cell proliferation and apoptosis regulation"*
**作者**: Kim et al., 2020
**摘要**: 研究利用重组LMBRD1蛋白体外表达系统，发现该蛋白通过调控mTOR信号通路影响细胞增殖与凋亡，为癌症相关代谢异常提供了新机制。
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*注：以上文献信息为示例性质，实际引用需核实真实发表的论文。若需要具体文章，建议在PubMed或Web of Science平台检索关键词"recombinant LMBRD1"或"LMBRD1 protein function"。*
Recombinant human LMBRD1 protein is derived from the LMBRD1 gene located on chromosome 6 (6q13), encoding a lysosomal membrane protein involved in intracellular vitamin B12 (cobalamin) metabolism. LMBRD1 contains a conserved LMBR1 domain and acts as a transmembrane transporter, facilitating the release of vitamin B12 from lysosomes into the cytoplasm. This process is critical for converting vitamin B12 into its active forms, methylcobalamin and adenosylcobalamin, essential for methionine synthesis and mitochondrial energy production, respectively.
Mutations in the LMBRD1 gene are linked to the cblF-type combined homocystinuria and methylmalonic aciduria, a rare inherited disorder characterized by vitamin B12 deficiency symptoms, including developmental delays, anemia, and metabolic acidosis. Recombinant LMBRD1 protein is engineered in vitro (e.g., via E. coli or mammalian systems) to study its structure-function relationships, substrate-binding mechanisms, and interaction partners like ABCD4 and LMBD1. Its production enables functional assays, antibody development, and exploration of therapeutic strategies for cblF deficiency. Researchers also utilize recombinant LMBRD1 to model lysosomal vitamin B12 transport defects and screen potential drug candidates to restore metabolic pathways in affected cells.
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