Human Gene Module / Chromosome 8 / SYBU

SYBUsyntabulin

SFARI Gene Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
1 / 1
Rare Variants / Common Variants
1 / 0
Aliases
SYBU, GOLSYN,  OCSYN,  SNPHL
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
8q23.2
Associated Disorders
-
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.

Molecular Function

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)
Common Variants  

No common variants reported.

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