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Official Full Name: synaptotagmin 2
Also known as: CMS7; CMS7A; CMS7B; MYSPC; SytII
This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants.