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Concept information

Preferred term

Dysbindin  

Type

  • mesh:Descriptor

Definition

  • 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.

Entry terms

  • DTNBP1 Protein
  • Dysbindin-1
  • Dystrobrevin Binding Protein 1
  • Hermansky-Pudlak Syndrome 7 Protein

In other languages

  • French

  • Dysbindine-1
  • Protéine DTNBP1
  • Protéine du syndrome de Hermansky-Pudlak de type 7
  • Protéine-1 de liaison à la dystrobrévine
  • Protéine-1 fixant la dystrobrévine
  • Protéine-1 liant la dystrobrévine

URI

http://data.loterre.fr/ark:/67375/JVR-MSFJL6S7-B

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RDF/XML TURTLE JSON-LD Created 7/11/17, last modified 4/5/17