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MFN=57103
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DeCS
Descriptor
English
:
Dysbindin
Descriptor
Spanish
:
disbindina
Descriptor
Portuguese
:
Disbindina
Synonyms
English
:
DTNBP1 Protein
Dysbindin 1
Dysbindin-1
Dystrobrevin Binding Protein 1
Hermansky Pudlak Syndrome 7 Protein
Hermansky-Pudlak Syndrome 7 Protein
Tree Number:
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
Definition
English
:
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.
History Note
English
:
2018
Allowable Qualifiers
English
:
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
Record Number:
57103
Unique Identifier:
D000074765
Occurrence in VHL
:
Similar:
DeCS