DeCS

Descriptor en español:

Disbindina

Español de España

Descriptor	disbindina
Término(s) alternativo(s)	disbindina-1 proteína 1 de unión a distrobrevina proteína 7 de la sindrome de Hermansky-Pudlak proteína DTNBP1
Nota de alcance:	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 en inglés:

Dysbindin

Descriptor en portugués:

Disbindina

Descriptor en francés:

Dysbindine

Término(s) alternativo(s):

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

Código(s) jeráquico(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

Identificador Único RDF:

https://id.nlm.nih.gov/mesh/D000074765

Nota de alcance:

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.

Calificadores permitidos:

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

UI del concepto	M000627424
Nota de alcance	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.
Término preferido	Dysbindin
Término(s) alternativo(s)	DTNBP1 Protein Dysbindin 1 Dysbindin-1 Dystrobrevin Binding Protein 1 Hermansky Pudlak Syndrome 7 Protein Hermansky-Pudlak Syndrome 7 Protein

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