Aliases: CDHR14, CSTN3, alcbeta
Chromosome No: 12
Chromosome Band: 12p13.31
Genetic Category: Functional-Rare single gene variant
ASD Reports: 8
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 7
Evidence score: 2
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Relevance to Autism
Calsyntenin-3, a protein encoded by the CLSTN3 gene, was identified as a synapse-organizing protein unique in binding and recruiting alpha-neurexins, but not beta-neurexins; interestingly, the majority of NRXN variations associated with ASD and schizophrenia selectively affect alpha-neurexins. Additional studies demonstrated that calsyntenin-3 is required for normal functional GABAergic and glutamatergic synapse development (Pettem et al., 2013).
Molecular Function
May modulate calcium-mediated postsynaptic signals and forms a complex with APBA2 and APP. Subcellular localization is most prominent in the postsynaptic specializations of asymmetric (type I) synapses with both axodendritic and axospinous localization. Present throughout all cortical layers of the brain, with highest levels in GABAergic neurons.
External Links
