RIMS1
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Regulating synaptic membrane exocytosis protein 1 is a protein that in humans is encoded by the RIMS1 gene.[1][2][3]
Function
[edit | edit source]RAB3A (MIM 179490), a member of the Ras superfamily of genes, is a synaptic vesicle protein that regulates synaptic vesicle exocytosis. MUNC13 (UNC13; MIM 605836) 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.[supplied by OMIM][3]
Clinical significance
[edit | edit source]Mutations of the gene cause cone-rod dystrophy 7.
Interactions
[edit | edit source]RIMS1 has been shown to interact with:
References
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Further reading
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