Dystrobrevin-binding protein 1 (DTNBP1)

Dystrobrevin-binding protein 1 (**DTNBP1**, also known as Dysbindin) is a core, stable component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1), a multisubunit complex involved in intracellular protein trafficking, synaptic vesicle biogenesis, and neurotransmitter release in neuronal cells[1][3][4]. The DTNBP1 gene is located on chromosome 6 (6p22.3) and encodes a coiled-coil protein with prominent expression in neural tissue, notably in hippocampal and cortical regions[1][3]. Dysbindin serves important scaffolding and regulatory roles in synaptic plasticity, axonal trafficking, dopamine D2 receptor surface expression, and glutamatergic/GABAergic signaling[1][3][4]. Mutations in DTNBP1 cause Hermansky-Pudlak syndrome type 7, a rare multisystem disorder of organelle biogenesis. The gene is also strongly implicated as a risk locus for schizophrenia, with both genetic association and molecular evidence pointing to contributions to synaptic dysfunction and cognitive impairment[1][3][4]. There are no currently approved drugs that specifically target DTNBP1, but changes in DTNBP1 level or genotype are explored as biomarkers for psychiatric disorders, especially schizophrenia.

Other names

DysbindinBLOC-1 subunit 8BLOC1S8My031HPS7 proteinDBNDHermansky-Pudlak syndrome 7 proteinbiogenesis of lysosome-related organelles complex 1 subunit 8Dysbindin-1SDY

Not applicable (no direct drugs/therapeutic action established on DTNBP1 itself)