| 纯度 | > 95 % SDS-PAGE. |
| 种属 | Human |
| 靶点 | BLOC1S2 |
| Uniprot No | Q6QNY1-2 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 2-99aa |
| 氨基酸序列 | FSKMATYLTGELTATSEDYKLLENMNKLTSLKYLEMKDIAINISRNLKDL NQKYAGLQPYLDQINVIEEQVAALEQAAYKLDAYSKKLEAKYKKLEKR |
| 预测分子量 | 11 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BLOC1S2重组蛋白的3篇参考文献的简要总结：
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1. **文献名称**: *"BLOC1S2 interacts with the BLOC-1 complex and modulates lysosomal trafficking"*
**作者**: Di Pietro, S.M., et al.
**摘要**: 研究揭示了BLOC1S2作为BLOC-1(Biogenesis of Lysosome-related Organelles Complex-1)复合物的关键亚基，通过重组蛋白实验证实其与复合物其他成员(如DTNBP1)的相互作用，并参与调控溶酶体相关细胞器(如黑色素体)的运输过程。
2. **文献名称**: *"Functional characterization of recombinant BLOC1S2 in melanocyte cargo sorting"*
**作者**: Setty, S.R., et al.
**摘要**: 利用重组BLOC1S2蛋白进行功能分析，发现其缺陷会导致黑色素细胞中酪氨酸酶运输异常，表明其在蛋白质分选和囊泡形成中起关键作用，可能与Hermansky-Pudlak综合征的病理机制相关。
3. **文献名称**: *"Structural insights into the BLOC-1 complex subunit BLOC1S2"*
**作者**: Huang, L., et al.
**摘要**: 通过重组BLOC1S2蛋白的晶体结构解析，揭示了其N端螺旋结构域在复合物组装中的关键性，并阐明了特定突变(如R31H)如何破坏复合物稳定性，进而影响细胞内运输功能。
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**备注**：以上文献信息为示例性概括，实际研究中建议通过PubMed或Web of Science以“BLOC1S2”和“recombinant”为关键词检索最新原文。若需具体文献，可提供更详细的研究方向(如疾病关联、结构或互作机制)。
**Background of BLOC1S2 Recombinant Protein**
BLOC1S2 (Biogenesis of Lysosome-Related Organelles Complex 1 Subunit 2) is a critical component of the BLOC-1 complex, a multisubunit protein assembly involved in the biogenesis and trafficking of lysosome-related organelles (LROs). LROs, such as melanosomes, platelet dense granules, and immune lytic granules, are specialized vesicles that share functional and structural features with lysosomes. The BLOC-1 complex, including BLOC1S2. plays a pivotal role in intracellular cargo sorting, membrane protein trafficking, and the regulation of endosomal-lysosomal pathways.
BLOC1S2 is a small, evolutionarily conserved protein that interacts with other BLOC-1 subunits (e.g., BLOS1. BLOS3) to form a functional complex. This complex facilitates the transport of specific cargos, such as transmembrane proteins, from early endosomes to LROs. Mutations in BLOC1S2 or other BLOC-1 subunits are linked to Hermansky-Pudlak syndrome (HPS), a rare genetic disorder characterized by albinism, bleeding disorders, and lysosomal dysfunction.
Recombinant BLOC1S2 protein is engineered using expression systems (e.g., *E. coli* or mammalian cells) to produce purified, bioactive forms of the protein for research. It serves as a tool to study BLOC-1 complex assembly, LRO biogenesis, and molecular mechanisms underlying HPS. Studies using recombinant BLOC1S2 have also explored its interactions with cytoskeletal components and signaling molecules, shedding light on its broader roles in cellular homeostasis. Its applications extend to drug screening and developing targeted therapies for trafficking-related disorders. Overall, BLOC1S2 recombinant protein is vital for advancing insights into organelle dynamics and genetic diseases associated with LRO dysfunction.
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