RIMS1
LOCUS ID22999
GENE_SYMBOLRIMS1
GENE NAMEregulating synaptic membrane exocytosis 1
SYNONYMNSRIM,RIM1,CORD7,RAB3IP2
CHROMOSOME6
HOMOLOGENE ID128399
GENE SUMMARY
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]