RIMS1

Chr 6

regulating synaptic membrane exocytosis 1

Also known as: CORD7, RAB3IP2, RIM, RIM1

NCBI Gene: 22999 ENSG00000079841 UniProt: Q86UR5

The protein regulates synaptic vesicle exocytosis and voltage-gated calcium channels during neurotransmitter release, serving as a scaffold protein at the active zone. Mutations cause cone-rod dystrophy type 7 and have been associated with cognitive impairment, following an autosomal recessive inheritance pattern. The gene is highly constrained against loss-of-function variants (pLI = 0.99), indicating intolerance to protein-truncating mutations.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (2)