Related MeSH Hierarchy (5)
Chemicals and Drugs [D] » Amino Acids, Peptides, and Proteins [D12] » Proteins » Contractile Proteins » Muscle Proteins » Dystrophin-Associated Proteins » Dysbindin
Chemicals and Drugs [D] » Amino Acids, Peptides, and Proteins [D12] » Proteins » Cytoskeletal Proteins » Dystrophin-Associated Proteins » Dysbindin
Chemicals and Drugs [D] » Amino Acids, Peptides, and Proteins [D12] » Proteins » Membrane Proteins » Dystrophin-Associated Proteins » Dysbindin
Chemicals and Drugs [D] » Amino Acids, Peptides, and Proteins [D12] » Proteins » Membrane Proteins » Vesicular Transport Proteins » Dysbindin
Chemicals and Drugs [D] » Amino Acids, Peptides, and Proteins [D12] » Proteins » Nerve Tissue Proteins » Dysbindin
Description
A dystrophin-associated protein and component of the Biogenesis of Lysosomal Organelles Complex-1 (BLOC-1 complex) which is essential for the formation of LYSOSOME - derived organelles such as platelet dense granules and MELANOSOMES. DTNBP1 is expressed primarily in the brain and neurons, where it functions with ADAPTOR PROTEIN COMPLEX 3 to transport membrane proteins to NEURITES and nerve terminals. It also regulates the release of neurotransmitters, transport of synaptic vesicles, and localization of DOPAMINE D2 RECEPTORS. Mutations in the DTNBP1 gene are associated with Type 7 HERMANSKY-PUDLAK SYNDROME and SCHIZOPHRENIA. MeSH
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