Relevance to Autism

Salpietro et al., 2019 reported five unrelated individuals with de novo heterozygous variants in the VAMP2 gene presenting with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, autistic features (with a diagnosis of ASD in two individuals), Rett syndrome-like features, EEG abnormalities with or without seizures, and delayed or absent speech. A de novo missense variant in VAMP2 had previously been identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014).

Molecular Function

The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin.

External Links

References