{"symbol":"DTNBP1","synonyms":["HPS7","SDY","DBND","BLOC1S8","MY031"],"name":"dystrobrevin binding protein 1","description":"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]","ncbiEntrezGeneId":84062,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/84062","proteins":[{"symbol":"DTBP1_HUMAN","href":"/api/1.0/protein/DTBP1_HUMAN"}],"hgncRootFamilies":[{"name":"Biogenesis of lysosomal organelles complex-1 subunits (BLOC1S)","href":"/api/1.0/gene_family/Biogenesis+of+lysosomal+organelles+complex-1+subunits+%28BLOC1S%29"}]}