DBNDD1 Human

Dysbindin was first identified by Derek Blake’s research group through yeast two-hybrid screening for binding partners of α-dystrobrevin . The protein is encoded by the DTNBP1 gene, which is located on chromosome 6 in humans . Dysbindin is predominantly found in neural tissues, particularly in axon bundles and certain axon terminals, such as mossy fiber synaptic terminals in the cerebellum and hippocampus .

Dysbindin is involved in several key biological processes, including:

• Actin cytoskeleton reorganization
• Regulation of dopamine secretion
• Neuron projection morphogenesis
• Platelet dense granule organization
• Regulation of synaptic vesicle exocytosis

The protein functions by interacting with various partners in synapses or the cytoplasm, regulating neurite outgrowth and neurotransmitter release . Dysbindin’s role in these processes is critical for maintaining normal cellular functions and signaling pathways.

Dysbindin has been linked to several diseases and conditions. Notably, it has been identified as a susceptibility gene for schizophrenia . Loss of dysbindin function can affect schizophrenia pathology by disrupting normal neurotransmitter release and synaptic plasticity . Additionally, dysbindin is associated with Hermansky-Pudlak Syndrome, a genetic disorder characterized by albinism, bleeding disorders, and lung and bowel diseases .

Research on dysbindin continues to uncover its various roles and mechanisms in cellular processes. The human recombinant form of dysbindin is used in research to study its functions and interactions in a controlled environment. This recombinant protein helps scientists understand the molecular basis of diseases associated with dysbindin and develop potential therapeutic strategies.