The gnao1 gene encodes a guanine nucleotide-binding protein (g protein), specifically an alpha-o subunit, which functions as a gtpase that hydrolyzes gtp to gdp and is involved in intracellular signal ...[+]

The gnao1 gene encodes a guanine nucleotide-binding protein (g protein), specifically an alpha-o subunit, which functions as a gtpase that hydrolyzes gtp to gdp and is involved in intracellular signal transduction by coupling neurotransmitter receptors to ion channels. It is membrane-bound and localized to the plasma membrane and synapses. Expression is documented in the brain, spinal cord, neural tube, retina, and peripheral nervous system. [-]

             developmental and epileptic encephalopathy 17
             neurodevelopmental disorder with involuntary movements

          NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS; NEDIM

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD