Entrez gene ID | | 22999 |
Official gene symbol | | RIMS1 |
Full name | | regulating synaptic membrane exocytosis 1 |
Aliases | | ,CORD7,KIAA0340,MGC167823,MGC176677,RAB3IP2,RIM,RIM1, |
Gene summary | | The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. The encoded protein may be part of the protein scaffold of the cell. Defects in this gene are a cause of cone-rod dystrophy type 7 (CORD7). Several transcript variants encoding different isoforms have been found for this gene. |
Location | | Chromosome: 6 Locus: 6q12-q13 |
Gene position | | 72596650 - 73112845 Map Viewer |
Gene orientation | | plus |
Gene size | | 516196 bp |
Gene sequence |
| |
OMIM ID | | 606629 |