Predicted to enable SNAP receptor activity and syntaxin binding activity. Involved in SNARE complex assembly; regulation of synaptic vesicle fusion to presynaptic active zone membrane; and synaptic vesicle priming. Located in cell surface. Is active in glutamatergic synapse and neuromuscular junction. Is expressed in brain; cerebellum molecular layer; and ventral tegmental area. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome and spastic ataxia 1. Orthologous to human VAMP1 (vesicle associated membrane protein 1).
MGI Description
PHENOTYPE: Mice homozygous for a spontaneous mutation show a 30% reduction in body size, do not attempt to right themselves, become visibly immobile and lay on their side by postnatal day 10, and display a general lack of purposeful movement and wasting leading to death prior to weaning. [provided by MGI curators]