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FLASH GENE
Symbol BSN contributors: mct:/npt - updated : 08-07-2016
HGNC name bassoon (presynaptic cytomatrix protein)
HGNC id 1117
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
in cerebellum of patients with multiple system atrophy (MSA)
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • partial-deletion mutants lacking functional bassoon (Bsn(deltaEx4/5)) had a near-complete loss of ribbons from the synapses (up to 88 p100 ribbonless synapses)
  • mice mutant for the presynaptic protein BSN develop epileptic seizures and an altered pattern of neuronal activity that is accompanied by abnormal enlargement of several brain structures, with the strongest size increase in hippocampus and cortex