Gene Symbol | RIMS1 |
Entrez Gene ID | 22999 |
Full Name | regulating synaptic membrane exocytosis 1 |
Synonyms | CORD7,RAB3IP2,RIM,RIM1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Cone-rod dystrophy 7, 603649 (3) |