Dtnp1 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 protein are associated with Hermansky-Pudlak syndrome type 7. This protein may also be associated with schizophrenia.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: biogenesis of lysosomal organelles complex-1, subunit 8; Biogenesis of lysosome-related organelles complex 1 subunit 8; BLOC-1 subunit 8; Dtnbp1; Dysbindin; Dysbindin-1; Dystrobrevin-binding protein 1; Hermansky-Pudlak syndrome 7 protein; Hermansky-Pudlak syndrome 7 protein homolog; HPS7 protein; HPS7 protein homolog; Hps7-like protein; sandy; Sdy
Gene Aliases: 5430437B18Rik; AW048963; BLOC1S8; DBND; DTNBP1; dysbindin; HPS7; My031; SDY