Dysbindin (also known as DTNBP1) is a neuronal protein. DTNBP1 mRNA is widely expressed in the brain, located in postsynaptic densities and synaptic vesicles of neurons. Dysbindin-1 is coded by dystrobrevin-binding protein 1 gene (DTNBP1), that is located on the short (p) arm of human chromosome 6.
Immunogen
synthetic peptide corresponding to a sequence at an internal region of human dysbindin, conjugated to KLH. The corresponding sequence is identical in human dysbindin isoforms b, c and in rat and mouse dysbindin.
Application
Anti-Dysbindin antibody produced in rabbit has been used in immunoblotting and immunofluorescence.
Biochem/physiol Actions
Dysbindin (DTNBP1) controls synaptic homeostasis by regulating the exocytosis and formation of synaptic vesicles. The DTNBP1 gene has been linked to schizophrenia in humans. Polymorphism of DTNBP1 confers susceptibility to schizophrenia through a decreased expression of dysbindin. Mutations in the human DTNBP1 gene causes a novel form of Hermansky-Pudlak syndrome (HPS) called HPS-7, a genetically heterogeneous disorder caused by abnormal vesicle trafficking to lysosomes and related organelles. Dysbindin, a constituent of the biogenesis of lysosome-related organelles complex 1 (BLOC-1), controls the trafficking of proteins in the lysosomal pathway, suggesting that dysbindin has a role in the biogenesis of lysosome-related organelles.
Physical form
Solution in 0.01 M phosphate buffered saline, pH 7.4, containing 15 mM sodium azide.
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Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)
Li W, et al.
Nature Genetics, 35(1), 84-84 (2003)
The schizophrenia susceptibility gene dysbindin controls synaptic homeostasis
Dickman DK and Davis GW
Science (New York, N.Y.), 326(5956) (2009)
Dysbindin-1 involvement in the etiology of schizophrenia
Wang H, et al.
International Journal of Molecular Sciences, 18(10), 2044-2044 (2017)
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