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rims1

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Official Full Name
regulating synaptic membrane exocytosis 1
Background
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.
Synonyms
RIMS1; regulating synaptic membrane exocytosis 1; CORD7, RAB3 interacting protein 2 , RAB3IP2; regulating synaptic membrane exocytosis protein 1; KIAA0340; Rab3 interacting molecule; RIM; RIM1; RAB3-interacting protein 2; rab-3-interacting protein 2; rab

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