Symbol
| BSN
| contributors: mct:/npt - updated : 08-07-2016
|
HGNC name
| bassoon (presynaptic cytomatrix protein)
|
HGNC id
| 1117
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
| --over
|  
|
in cerebellum of patients with multiple system atrophy (MSA) | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
| | | |
| 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 |