Search
Descriptor English: Dysbindin
Descriptor Spanish: Disbindina
Descriptor disbindina
Entry term(s) disbindina-1
proteína 1 de unión a distrobrevina
proteína 7 de la sindrome de Hermansky-Pudlak
proteína DTNBP1
Scope note: Proteína asociada a la distrofina y componente del Complejo 1 de Biogénesis de Orgánulos Relacionados con los Lisosomas (complejo BLOC-1) que es esencial para la formación de orgánulos derivados de los lisosomas, como los gránulos densos de las plaquetas y los MELANOSOMAS. La proteína DTNBP1 se expresa principalmente en el cerebro y las neuronas, donde actúa con el COMPLEJO 3 DE PROTEÍNA ADAPTADORA en el transporte de las proteínas de la membrana a las NEURITAS y terminales nerviosas. También regula la liberación de los neurotransmisores, el transporte de las vesículas sinápticas y la localización de los RECEPTORES DE DOPAMINA D2. Las mutaciones del gen DTNBP1 se asocian al SÍNDROME DE HERMANSKY-PUDLAK tipo 7 y a la ESQUIZOFRENIA.
Descriptor Portuguese: Disbindina
Descriptor French: Dysbindine
Entry term(s): DTNBP1 Protein
Dysbindin 1
Dysbindin-1
Dystrobrevin Binding Protein 1
Hermansky Pudlak Syndrome 7 Protein
Hermansky-Pudlak Syndrome 7 Protein
Tree number(s): 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
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D000074765
Scope note: 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.
Allowable Qualifiers: AD administration & dosage
AE adverse effects
AG agonists
AI antagonists & inhibitors
AN analysis
BI biosynthesis
BL blood
CF cerebrospinal fluid
CH chemistry
CL classification
CS chemical synthesis
DE drug effects
DF deficiency
EC economics
GE genetics
HI history
IM immunology
IP isolation & purification
ME metabolism
PD pharmacology
PH physiology
PK pharmacokinetics
PO poisoning
RE radiation effects
SD supply & distribution
ST standards
TO toxicity
TU therapeutic use
UL ultrastructure
UR urine
Previous Indexing: Dystrophin-Associated Proteins (2001-2017)
Public MeSH Note: 2018
History Note: 2018
DeCS ID: 57103
Unique ID: D000074765
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2018/01/01
Date of Entry: 2017/07/11
Revision Date: 2017/04/05
Dysbindin - Preferred
Concept UI M000627424
Scope note 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.
Preferred term Dysbindin
Entry term(s) DTNBP1 Protein
Dysbindin 1
Dysbindin-1
Dystrobrevin Binding Protein 1
Hermansky Pudlak Syndrome 7 Protein
Hermansky-Pudlak Syndrome 7 Protein



We want your feedback on the new DeCS / MeSH website

We invite you to complete a survey that will take no more than 3 minutes.

Go to survey