Entrez gene ID | | 84062 |
Official gene symbol | | DTNBP1 |
Full name | | dystrobrevin binding protein 1 |
Aliases | | ,DBND,DKFZp564K192,FLJ30031,HPS7,MGC20210,My031,SDY, |
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] |
Location | | Chromosome: 6 Locus: 6p22.3 |
Gene position | | 15663289 - 15523032 Map Viewer |
Gene orientation | | minus |
Gene size | | 140258 bp |
Gene sequence |
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OMIM ID | | 607145 |
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