Dysbindin
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| dysbindin | |||||||
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| Identifiers | |||||||
| Symbol | DTNBP1 | ||||||
| NCBI gene | 84062 | ||||||
| HGNC | 17328 | ||||||
| OMIM | 607145 | ||||||
| UniProt | Q96EV8 | ||||||
| Other data | |||||||
| Locus | Chr. 6 p22.3 | ||||||
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Dysbindin, short for dystrobrevin-binding protein 1, is a protein constituent of the dystrophin-associated protein complex of skeletal muscle cells. 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
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.[2] However, the exact link between dysbindin and schizophrenia remains highly controversial.
References
- ^ a b Benson; et al. (2001). "Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain". J Biol Chem. 276 (26): 24232–41. PMID 11316798.
{{cite journal}}: Explicit use of et al. in:|author=(help) - ^ Straub; et al. (2002). "Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia". Am J Hum Genet. 71 (2): 337–48. PMID 12098102.
{{cite journal}}: Explicit use of et al. in:|author=(help)
External links
- Dysbindin at the U.S. National Library of Medicine Medical Subject Headings (MeSH)