Overview
| 别名 | Biogenesis of lysosome-related organelles complex 1 subunit 3; BLOC-1 subunit 3 |
| 基因名 | BLOC1S3 |
| UniProt ID | Q6QNY0 |
| 反应种属 | Human |
| 应用 | IHC-P |
| 宿主 | Mouse |
| 偶联物 | Unconjugated |
| 修饰 | Unmodified |
| 亚型 | IgG1 |
| 克隆号 | 1J2-D5-L8 |
| 克隆性 | Monoclonal Antibody |
| 分子量 | Calculated MW: 21 kDa |
| 纯化方式 | Affinity Purified |
| 产品形式 | Liquid |
| 推荐稀释比 | IHC-1:100 |
| 存储缓冲液 | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.09% sodium azide |
| 保存温度 | Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles. |
| 背景信息 | Biogenesis of lysosomal organelles complex 1 subunit 3 (BLOC1S3) is a core component of the BLOC-1 multi-subunit complex, which is essential for the biogenesis of lysosome-related organelles (LROs). This complex works in coordination with the AP-3 complex to facilitate the trafficking of membrane protein cargos to specialized organelles, such as platelet dense granules and melanosomes. BLOC1S3 is also involved in intracellular vesicle transport and neurite extension. Clinically, mutations in BLOC1S3 cause Hermansky-Pudlak Syndrome 8 (HPS-8), a disorder characterized by oculocutaneous albinism and bleeding diathesis due to platelet storage pool deficiency. Loss of BLOC1S3 destabilizes the entire BLOC-1 complex, leading to defective protein trafficking and severely impaired pigment production in melanocytes. |
检测原理