| Entrez Gene ID |
22999 |
| Official Gene Symbol |
RIMS1 (GeneCards) |
| Full name |
regulating synaptic membrane exocytosis 1 |
| Location |
6q13 |
| Other ids |
Vega : OTTHUMG00000015009
MIM : 606629
HGNC : HGNC:17282
Ensembl : ENSG00000079841
|
| Other names |
RIM,
RIM1,
CORD7,
RAB3IP2
|
| 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] |