Gnao1

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). [provided by Alliance of Genome Resources, Nov 2024]

该基因促进G蛋白活性和GTP结合活性，参与胰岛素分泌的负向调控以及化学突触传递的突触后调制。在突触小泡对接的负向调节中发挥上游作用，该过程涉及胞吐作用。在G蛋白偶联多巴胺受体信号通路、运动行为和心脏收缩的调节中发挥上游或内部作用。定位于细胞体和树突。在多个细胞成分中活跃，包括GABA能突触、平行纤维到浦肯野细胞的突触以及突触膜。在多个结构中表达，包括消化系统、大脑、神经节、泌尿生殖系统和感觉器官。用于研究17型发育性和癫痫性脑病以及神经发育障碍伴随不自主运动。该基因的人类同源基因与17型发育性和癫痫性脑病以及神经发育障碍伴随不自主运动有关。与人类GNAO1（G蛋白亚基αo1）同源。[由基因组资源联盟提供，2024年11月]