Expresión de búsqueda: MFN=57103 
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Descriptor Inglés:   Dysbindin 
Descriptor Español:   disbindina 
Descriptor Portugués:   Disbindina 
Sinónimos Inglés:   DTNBP1 Protein
Dysbindin 1
Dysbindin-1
Dystrobrevin Binding Protein 1
Hermansky Pudlak Syndrome 7 Protein
Hermansky-Pudlak Syndrome 7 Protein  
Categoría:   D12.776.210.500.410.250
D12.776.220.362.125
D12.776.543.268.250
D12.776.543.990.447
D12.776.631.262
Definición Inglés:   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. 
Nota Histórica Inglés:   2018 
Calificadores Permitidos Inglés:  
AD administration & dosage AE adverse effects
AG agonists AN analysis
AI antagonists & inhibitors BI biosynthesis
BL blood CF cerebrospinal fluid
CS chemical synthesis CH chemistry
CL classification DF deficiency
DE drug effects EC economics
GE genetics HI history
IM immunology IP isolation & purification
ME metabolism PK pharmacokinetics
PD pharmacology PH physiology
PO poisoning RE radiation effects
ST standards SD supply & distribution
TU therapeutic use TO toxicity
UL ultrastructure UR urine
Número del Registro:   57103 
Identificador Único:   D000074765 

Ocurrencia en la BVS:
 

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DeCS