Anti-Dysbindin from rabbit, purified by affinity chromatography

Dysbindin (UniProt: Q96EV8; also known as 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) is encoded by the DTNBP1 (also known as BLOC1S8, My031) gene (Gene ID: 84062) in human. Dysbindin is a component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. It plays a role in synaptic vesicle trafficking and in neurotransmitter release. Three isoforms produced by alternative splicing and alternative initiation have been described. Isoform 1 is mainly cytoplasmic, but shuttles between the cytoplasm and nucleus. It is exported out of the nucleus via its nuclear export sequence (NES). Its nuclear localization is required for regulation of the expression of genes, such as SYN1. It is detected in neuron cell bodies, axons and dendrites and is mainly located to the postsynaptic density. Isoform 2 also shuttles between the cytoplasm and nucleus and is mainly expressed in the dendritic spine. It is predominantly a synaptic vesicle isoform but also highly expressed in the nucleus. Isoform 3 is exclusively cytoplasmic and is predominantly found in the postsynaptic density (PSD) with little association with synaptic vesicles. Mutations in DTNBP1 gene have been linked to Hermansky-Pudlak syndrome 7 (HPS7) that is characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. Defects in DTNBP1 are associated with susceptibility to schizophrenia.