Anti-Dysbindin/DTNBP1 Antibody Picoband® Biotin Conjugated

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.

DTNBP1; BLOC1S8; My031; Dysbindin; Biogenesis of lysosome-related organelles complex 1 subunit 8; BLOC-1 subunit 8; Dysbindin-1; Dystrobrevin-binding protein 1; Hermansky-Pudlak syndrome 7 protein; HPS7 protein

E.coli-derived human Dysbindin/DTNBP1 recombinant protein (Position: M1-S351) . Human Dysbindin/DTNBP1 shares 79.4% and 78.6% amino acid (aa) sequence identity with mouse and rat Dysbindin/DTNBP1, respectively.

1. Benson, M. A., Newey, S. E., Martin-Rendon, E., Hawkes, R., Blake, D. J. Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain. J. Biol. Chem. 276: 24232-24241, 2001. 2. Bryan, M. M., Tolman, N. J., Simon, K. L., Huizing, M., Hufnagel, R. B., Brooks, B. P., Speransky, V., Mullikin, J. C., Gahl, W. A., Malicdan, M. C. V., Gochuico, B. R. Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. Molec. Genet. Metab. 120: 378-383, 2017. 3. Dickman, D. K., Davis, G. W. The schizophrenia susceptibility gene dysbindin controls synaptic homeostasis. Science 326: 1127-1130, 2009.