DTNBP1
Sign in to saveAlso known as BLOC1S8, DBND, HPS7, My031, SDY, dystrobrevin binding protein 1
Dysbindin, short for dystrobrevin-binding protein 1, is a protein constituent of the dystrophin-associated protein complex (DPC) of skeletal muscle cells. It is also a part of BLOC-1, or biogenesis of lysosome-related organelles complex 1.In humans, dysbindin is encoded by the DTNBP1 gene.
Gene data
DTNBP1- Name
- dystrobrevin binding protein 1
- Type
- protein-coding
- Aliases
- BLOC1S8, DBND, HPS7, My031, SDY
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].
via MyGene.info
Gene · Ensembl
dystrobrevin binding protein 1
- Symbol
- DTNBP1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 6:15,520,284-15,663,066
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~4 min read
Encyclopedic overview
8 sectionsContents
- Discovery
- Tissue distribution
- Structure
- Function
- Clinical significance
- Interactions
- References
- External links
Dysbindin, short for dystrobrevin-binding protein 1, is a protein constituent of the dystrophin-associated protein complex (DPC) of skeletal muscle cells. It is also a part of BLOC-1, or biogenesis of lysosome-related organelles complex 1.In humans, dysbindin is encoded by the DTNBP1 gene.
== Discovery ==
Excerpted from Wikipedia’s “DTNBP1” article, available under the CC BY-SA 4.0 licence.