基因名:
DTNBP1
产品别名:
BLOC1S8; DBND; HPS7; My031; SDY; DTNBP1; dystrobrevin binding protein 1; dystrobrevin binding protein 1; dysbindin; BLOC-1 subunit 8; Hermansky-Pudlak syndrome 7 protein; biogenesis of lysosomal organelles complex-1, subunit 8; biogenesis of lysosome-related organelles complex 1 subunit 8; dysbindin-1; 异连蛋白结合蛋白1(DTNBP1); 精神分裂症易感基因;
背景信息:
Dysbindin 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 (BLOC1), and binds to alpha and beta dystrobrevins, which are components of the dystrophin associated protein complex (DPC). Mutations in Dysbindin gene are associated with Hermansky-Pudlak syndrome type 7. Dysbindin gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene.