SFARI Gene Score3
Autism Reports / Total Reports1 / 1
Rare Variants / Common Variants1 / 0
AliasesSYBU, GOLSYN, OCSYN, SNPHL
Genetic CategoryRare Single Gene Mutation
Relevance to Autism
Conditional stb knockout mice were found to display core autism-like traits, including deficits in social recognition and communication, increased stereotypic behavior, and impaired spatial learning and memory; furthermore, functional analysis of a de novo missense variant in the SYBU gene observed in an ASD proband demonstrated that this variant resulted in the loss of adapter capacity for binding kinesin-1 motors and failure to rescue reduced synapse formation and impaired synaptic transmission and plasticity in neurons from stb cKO mice.
Syntabulin/GOLSYN is part of a kinesin motor-adaptor complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development.
Reports related to SYBU (1 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Primary||Defects in syntabulin-mediated synaptic cargo transport associate with autism-like synaptic dysfunction and social behavioral traits||Xiong GJ et al. (2020)||Yes||-|
Rare Variants (1)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|c.533G>A||p.Arg178Gln||missense_variant||De novo||NA||-||32332993||Xiong GJ et al. (2020)|
No common variants reported.