Gene: SYT2
Alternate names for this Gene: CMS7|MYSPC|SytII
Gene Summary: 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.
Gene is located in Chromosome: 1
Location in Chromosome : 1q32.1
Description of this Gene: synaptotagmin 2
Type of Gene: protein-coding