| 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. |