bassoon presynaptic cytomatrix protein
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Moderate Evidence (Amber)
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalDDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalMonogenic hearing loss
epilepsy
neurodevelopmental disorder
neurodegenerative disease
ulcerative colitis
inflammatory bowel disease
Parkinson disease
Moebius syndrome
Mobius syndrome
vascular parkinsonism
parkinsonian disorder
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein bassoon
Scaffold protein of the presynaptic cytomatrix at the active zone (CAZ) which is the place in the synapse where neurotransmitter is released (PubMed:12812759). After synthesis, participates in the formation of Golgi-derived membranous organelles termed Piccolo-Bassoon transport vesicles (PTVs) that are transported along axons to sites of nascent synaptic contacts (PubMed:19380881). At the presynaptic active zone, regulates the spatial organization of synaptic vesicle cluster, the protein complexes that execute membrane fusion and compensatory endocytosis (By similarity). Also functions in processes other than assembly such as the regulation of specific presynaptic protein ubiquitination by interacting with SIAH1 or the regulation of presynaptic autophagy by associating with ATG5 (By similarity). Also mediates synapse to nucleus communication leading to reconfiguration of gene expression by associating with the transcriptional corepressor CTBP1 and by subsequently reducing the size of its pool available for nuclear import (By similarity). Inhibits the activity of the proportion of DAO enzyme that localizes to the presynaptic active zone, which may modulate synaptic transmission (By similarity)
BSN · Q9UPA5
Mean pLDDT
Not published
AlphaFold has not published a prediction for this sequence. This is common for very long proteins.
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
