DTNBP1, Official Symbol DTNBP1provided by HGNC Official Full Name dystrobrevin binding protein 1provided by HGNC Primary source HGNC:HGNC:17328 See related Ensembl:ENSG00000047579 MIM:607145; AllianceGenome:HGNC:17328 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SDY; DBND; HPS7; My031; BLOC1S8 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. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 6.2), spleen (RPKM 4.0) and 25 other tissues See more Orthologs mouse all