Gene: DTNBP1

Alternate names for this Gene: BLOC1S8|DBND|HPS7|My031|SDY

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.3

Description of this Gene: dystrobrevin binding protein 1

Type of Gene: protein-coding