Gene Symbol | SYT2 |
Entrez Gene ID | 127833 |
Full Name | synaptotagmin 2 |
Synonyms | CMS7,MYSPC,SytII |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Oct 2014]. |
Disorder MIM: | |
Disorder Html: | Myasthenic syndrome, congenital, 7, presynaptic, 616040 (3) |