Primary Identifier | MGI:95775 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 14681 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables G protein activity and GTP binding activity. Involved in negative regulation of insulin secretion and postsynaptic modulation of chemical synaptic transmission. Acts upstream of with a negative effect on vesicle docking involved in exocytosis. Acts upstream of or within G protein-coupled dopamine receptor signaling pathway; locomotory behavior; and regulation of heart contraction. Located in cell body and dendrite. Is active in several cellular components, including GABA-ergic synapse; parallel fiber to Purkinje cell synapse; and synaptic membrane. Is expressed in several structures, including alimentary system; brain; ganglia; genitourinary system; and sensory organ. Used to study developmental and epileptic encephalopathy 17 and neurodevelopmental disorder with involuntary movements. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 17 and neurodevelopmental disorder with involuntary movements. Orthologous to human GNAO1 (G protein subunit alpha o1). PHENOTYPE: Mice lacking both isoforms exhibit reduced survival, sterility, low body weight, hyperalgesia, tremors, turning behavior, impaired locomotion, altered channel response and improved glucose tolerance. Isoform-specific deletion may lead to increased insulin release and abnormal eye electrophysiology. [provided by MGI curators] |