DTNBP1

Also 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.

In the Vinony graph

Within Vinony's link graph, DTNBP1 is referenced by 180 other articles, and connects out to skeletal muscle, PubMed and myocardium.

It is catalogued under the topic Genes on human chromosome 6.

Its subject is documented across 5 Wikipedia language editions.

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