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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| DTNBP1-20-RE | 20 (40 μL) | 200 μL |  |
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| DTNBP1-20-OR | 20 (40 μL) | 200 μL |  |
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| DTNBP1-20-GO | 20 (40 μL) | 200 μL |  |
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| DTNBP1-20-GR | 20 (40 μL) | 200 μL |  |
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| DTNBP1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : DTNBP1
Gene Name : Dystrobrevin binding protein 1
Chromosome : CHR 6: 156,630,57-155,228,00
Locus : 6p22.3
Alt. Genes : ZNF263
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