Your search for "dtnbp1" returned 427 TaqMan® SNP Genotyping Assays
dystrobrevin binding protein 1
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]
5430437B18RIK, AW048963, BLOC1S8, DBND, DTNBP1, DYSBINDIN, HPS7, MY031, SDY
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