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Expression has cell cycle dependency according to biological definition
GENE INFORMATION
Gene name
DTNBP1 (HGNC Symbol)
Synonyms
BLOC1S8, DBND, Dysbindin, HPS7, My031
Description
Dystrobrevin binding protein 1 (HGNC Symbol)
Entrez gene 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]