RIMS1 Proteins and Enzymes

The protein encoded by the RIMS1 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.