- Concept UI
- M000627424
- Registry Numbers
- 0
- 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.
- Terms
-
Dysbindin
Preferred Term
Term UI
T000916989
Date03/09/2017
LexicalTag
NON
ThesaurusID
NLM (2018)
-
Dystrobrevin Binding Protein 1
Term UI
T000916991
Date03/09/2017
LexicalTag
NON
ThesaurusID
NLM (2018)
-
DTNBP1 Protein
Term UI
T000916990
Date03/09/2017
LexicalTag
ABX
ThesaurusID
NLM (2018)
-
Dysbindin-1
Term UI
T000916992
Date03/09/2017
LexicalTag
NON
ThesaurusID
NLM (2018)
-
Hermansky-Pudlak Syndrome 7 Protein
Term UI
T000916994
Date03/09/2017
LexicalTag
NON
ThesaurusID
NLM (2018)