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.
| Pack Size | 100ul, 1ml, 20ul |
|---|---|
| Applications | ELISA, IF/ICC, IHC-P, WB |
| Host Species | Rabbit |
| Ig Isotype | IgG |
| Antibody Type | Polyclonal Antibody |
| Organism Species | Human |
| Product Synonyms | DTNBP1 |
| Observed Mol Wt | 39kDa |
| Alternative Names | SDY; DBND; HPS7; My031; BLOC1S8; DTNBP1 |
| Immunogen (Antigen) | Recombinant protein |
| Format | Liquid |
| Buffer Formulation | 50% glycerol, PBS with 0.02% sodium azide, pH7.3 |
| Reactivity | Human |
| Uniprot ID | 84062 |
| Gene ID | Q96EV8 |
| Purification | Antigen-specific affinity chromatography followed by Protein A affinity chromatography |
| Usage | For Research Use Only. Not for diagnostics or human use. |
| Shelf Life | 12 months at time of shipping |
| Shipping | Shipped in Dry Ice at -20 Degree Celsius |
| Storage | Store at -20 Degree Celsius. It is recommended to aliquot and store to avoid repeated freeze-thaw as it affects the stability of the antibody. |
| Research Areas | Neuroscience |
| KD/KO Validated | KD Validated |
| Disclaimer | The data indicated herein are as indicated and validated in our laboratory. These reagents are for research use only and not for in-vitro diagnostics or human use. |

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