人 DTNBP1 抗体对
01AB02654
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.
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技术参数
- 靶点基因名
- DTNBP1
- 基因别名
- BLOC1S8
- 蛋白别名
- dystrobrevin binding protein 1; DTNBP1
- UniProt
- Q96EV8
- 物种
- Human
产品详情
- 靶点名称
- DTNBP1
- 蛋白名称
- dystrobrevin binding protein 1
- 蛋白别名
- 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
- 靶点基因名
- DTNBP1
- 基因别名
- BLOC1S8
- UniProt
- Q96EV8
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
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.