Dysbindin - CISMeF

Preferred Label : Dysbindin;

MeSH 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.;

MeSH synonym : Hermansky-Pudlak Syndrome 7 Protein; Hermansky Pudlak Syndrome 7 Protein; Dysbindin-1; Dysbindin 1; Dystrobrevin Binding Protein 1; DTNBP1 Protein;

Details

Origin ID

D000074765;

UMLS CUI

C4319598;

Allowable qualifiers
- administration and dosage [MeSH Qualifier]
- adverse effects [MeSH Qualifier]
- agonists [MeSH Qualifier]
- analysis [MeSH Qualifier]
- antagonists and inhibitors [MeSH Qualifier]
- biosynthesis [MeSH Qualifier]
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemical synthesis [MeSH Qualifier]
- chemistry [MeSH Qualifier]
- classification [MeSH Qualifier]
- deficiency [MeSH Qualifier]
- drug effects [MeSH Qualifier]
- economics [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- isolation and purification [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- pharmacokinetics [MeSH Qualifier]
- pharmacology [MeSH Qualifier]
- physiology [MeSH Qualifier]
- poisoning [MeSH Qualifier]
- radiation effects [MeSH Qualifier]
- standards [MeSH Qualifier]
- supply and distribution [MeSH Qualifier]
- therapeutic use [MeSH Qualifier]
- toxicity [MeSH Qualifier]
- ultrastructure [MeSH Qualifier]
- urine [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Dystrobrevin-binding protein 1 [OMIM gene]
- dystrobrevin binding protein 1 [ORDO Gene]
- dystrobrevin binding protein 1 [HGNC gene]
Record concept(s)
- Dysbindin [MeSH concept]
Related MeSH Supplementary Concept(s)
- DTNBP1 protein, human [MeSH Supplementary Concept]
- Dtnbp1 protein, mouse [MeSH Supplementary Concept]
- Dtnbp1 protein, rat [MeSH Supplementary Concept]
- Dysb protein, Drosophila [MeSH Supplementary Concept]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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