Source

Rabbit

Reactivity

Human

Background

Dysbindin, or dystrobrevin-binding protein 1, is a coiled-coil-containing protein expressed in muscle and brain that was identified as a binding partner of dystrobrevin. Dysbindin upregulates expression of the pre-synaptic proteins SNAP25 and synapsin I, thereby increasing glutamate release and promoting neuronal viability through Akt signaling. In particular, Akt phosphorylation is suppressed with downregulation of dysbindin and increased with upregulation of dysbindin. A nonsense mutation of dysbindin causes Hermansky-Pudlak disease, an autosomal recessive disorder characterized by lysosomal storage defects and prolonged bleeding.. Genetic variation in the gene encoding dysbindin is strongly associated with schizophrenia and protein levels are reduced in the prefrontal cortex, midbrain and hippocampus of brains from patients with schizophrenia.

References

[1] Benson, M.A. et al. (2001) J Biol Chem 276, 24232-41.
[2] Numakawa, T. et al. (2004) Hum Mol Genet 13, 2699-708.
[3] Straub, R.E. et al. (2002) Am J Hum Genet 71, 337-48.
[4] Talbot, K. et al. (2004) J Clin Invest 113, 1353-63.

Raw materials

Preparation Products