Overview
| 别名 | BLOC-3 complex member HPS4; Hermansky-Pudlak syndrome 4 protein; Light-ear protein homolog |
| 基因名 | HPS4 |
| UniProt ID | Q9NQG7 |
| 反应种属 | Human |
| 应用 | WB |
| 宿主 | Mouse |
| 偶联物 | Unconjugated |
| 修饰 | Unmodified |
| 亚型 | IgG1 |
| 克隆号 | 3U5-I6-B5 |
| 克隆性 | Monoclonal Antibody |
| 分子量 | Calculated MW: 76 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 | HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 (HPS4) is a component of the BLOC-3 complex, which acts as a guanine nucleotide exchange factor for Rab32 and Rab38 to regulate intracellular trafficking. BLOC-3 is essential for the biogenesis and positioning of lysosome-related organelles, including melanosomes in melanocytes and dense granules in platelets. HPS4 functions cooperatively with HPS1 to facilitate vesicular transport. Pathogenic variants in HPS4 result in Hermansky-Pudlak syndrome type 4, a disorder characterized by oculocutaneous albinism, bleeding diathesis due to platelet storage pool deficiency, and pulmonary fibrosis, reflecting the widespread failure of lysosome-related organelle formation. |
检测原理