Immunogen sequence: LVELQEQLQQ LPALIADLES MTANLTHLEA SFEEVENNLL HLEDLCGQCE LERCKHMQSQ QLENYKK
Dtnbp1 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 are associated with Hermansky-Pudlak syndrome type 7. This protein may also be associated with schizophrenia.
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Protein Aliases: biogenesis of lysosomal organelles complex-1, subunit 8; Biogenesis of lysosome-related organelles complex 1 subunit 8; BLOC-1 subunit 8; BLOC1S8; DBND; Dysbindin; Dysbindin-1; Dystrobrevin-binding protein 1; Hermansky-Pudlak syndrome 7 protein; HPS7; HPS7 protein; My031
Gene Aliases: BLOC1S8; DBND; DTNBP1; HPS7; My031; SDY
UniProt ID: (Human) Q96EV8
Entrez Gene ID: (Human) 84062