Dysbindin
Dysbindin is a protein that in humans is encoded by the DTNBP1 gene. It is involved in the biogenesis of lysosome-related organelles complex 1 (BLOC-1), which is important for the formation of melanosomes and platelet-dense granules. Dysbindin is also associated with the pathogenesis of schizophrenia.
Function[edit | edit source]
Dysbindin is a coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain. It is thought to be part of the dystrophin-associated protein complex (DPC), which performs a crucial role in maintaining the integrity of the neuromuscular junction. In the brain, the DPC is located in neurons, where it may be involved in maintaining the integrity of the postsynaptic density, an area of the neuron containing a high density of neurotransmitter receptors.
Clinical significance[edit | edit source]
Dysbindin is a candidate gene for susceptibility to schizophrenia. Variations in the DTNBP1 gene have been associated with differences in cognitive ability, particularly in patients with schizophrenia. Reduced levels of dysbindin protein in the hippocampus have been linked to cognitive deficits in schizophrenia.
See also[edit | edit source]
References[edit | edit source]
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