Overview
| 别名 | Dysbindin; Biogenesis of lysosome-related organelles complex 1 subunit 8; BLOC-1 subunit 8; Dysbindin-1; Dystrobrevin-binding protein 1; Hermansky-Pudlak syndrome 7 protein; HPS7 protein |
| 基因名 | DTNBP1 |
| UniProt ID | Q96EV8 |
| 反应种属 | Human |
| 应用 | WB |
| 宿主 | Mouse |
| 偶联物 | Unconjugated |
| 修饰 | Unmodified |
| 亚型 | IgG1 |
| 克隆号 | 3M3-J3-I2 |
| 克隆性 | Monoclonal Antibody |
| 分子量 | Calculated MW: 39 kDa |
| 纯化方式 | Affinity Purified |
| 产品形式 | Liquid |
| 推荐稀释比 | WB-1:1000 |
| 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 | Dystrobrevin binding protein 1 (DTNBP1), also known as dysbindin, is a cytosolic protein that serves as a core component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). It is essential for the trafficking and biogenesis of organelles such as melanosomes and platelet dense granules. DTNBP1 interacts with the dystrophin-associated protein complex and cooperates with AP-3 to sort membrane proteins, thereby influencing synaptic vesicle trafficking and neurotransmitter release. It also modulates glutamatergic transmission and dopamine D2 receptor expression. Clinically, pathogenic variants in DTNBP1 cause Hermansky-Pudlak syndrome type 7, characterized by oculocutaneous albinism and bleeding diathesis. Furthermore, DTNBP1 is recognized as a susceptibility gene for schizophrenia and other neurodevelopmental phenotypes. |
检测原理