Description
RAB3A, a member of the RAS gene superfamily, is a synaptic vesicle protein that regulates synaptic vesicle exocytosis. MUNC13 (UNC13) and its isoforms are required for priming synaptic vesicles for exocytosis. The RIM family of active zone proteins likely function as protein scaffolds that help regulate vesicle exocytosis during short-term plasticity. RIMS1 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.The deduced 1,053-amino acid protein was predicted to be weakly homologous to mouse rabphilin-3A and to be involved in cell signaling/communication