Dysbindin
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| dysbindin
| |
| Identifiers | |
| Symbol | DTNBP1 |
| Entrez | 84062 |
| HUGO | 17328 |
| OMIM | 607145 |
| UniProt | Q96EV8 |
| Other data | |
| Locus | Chr. 6 p22.3 |
Dysbindin, short for dystrobrevin-binding protein 1, is a protein constituent of the dystrophin-associated protein complex (DPC) of skeletal muscle cells. It is also a part of BLOC-1, or biogenesis of lysosome-related organelles complex 1. Dysbindin was discovered by the research group of Derek Blake via yeast two-hybrid screening for binding partners of α-dystrobrevin.[1] In addition, dysbindin is found in neural tissue of the brain, particularly in axon bundles and especially in certain axon terminals, notably mossy fiber synaptic terminals in the cerebellum and hippocampus.[1]
Implications for Schizophrenia and other pathologies
Much interest in dysbindin has arisen through pedigree-based family-association studies of families with a history of schizophrenia, where a strong association was found between expression of a particular dysbindin allele and a clinical expression of schizophrenia.[1] However, the exact link between dysbindin and schizophrenia remains highly controversial.
Probable dysbindin-related mechanisms causing brain dysfunction are not fully known, but in one study schizophrenic patients carrying the high-risk haplotype demonstrated visual processing deficits.[1] In another work, damping down the DTNBP1 expression led to an increase in cell surface dopamine D2-receptor levels.[1]
Mutation in the DTNBP1 gene was also shown to cause Hermansky-Pudlak syndrome type 7.[1]
