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RIMS1 |
LOCUS ID | 22999 |
GENE_SYMBOL | RIMS1 |
GENE NAME | regulating synaptic membrane exocytosis 1 |
SYNONYMNS | RIM,RIM1,CORD7,RAB3IP2 |
CHROMOSOME | 6 |
HOMOLOGENE ID | 128399 |
GENE SUMMARY |
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The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012] |