抗人 HPS4 抗体对
01AB02977
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.
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技术参数
- 靶点基因名
- HPS4
- 基因别名
- KIAA1667
- 蛋白别名
- HPS4 biogenesis of lysosomal organelles complex 3 subunit 2; HPS4
- UniProt
- Q9NQG7
- 物种
- Human
产品详情
- 靶点名称
- HPS4
- 蛋白名称
- HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
- 蛋白别名
- BLOC-3 complex member HPS4; Hermansky-Pudlak syndrome 4 protein; Light-ear protein homolog
- 靶点基因名
- HPS4
- 基因别名
- KIAA1667
- UniProt
- Q9NQG7
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
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.