GNAO1

The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene.

Full Name

guanine nucleotide binding protein, alpha O

Function

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(o) protein function is not clear. Stimulated by RGS14.

Biological Process

Adenylate cyclase-modulating G protein-coupled receptor signaling pathway Source: GO_Central
Aging Source: Ensembl
Dopamine receptor signaling pathway Source: GO_Central
Forebrain development Source: Ensembl
Locomotory behavior Source: Ensembl
Muscle contraction Source: ProtInc
Negative regulation of calcium ion transport Source: Ensembl
Neuron projection development Source: Ensembl
Odontogenesis of dentin-containing tooth Source: Ensembl
Positive regulation of GTPase activity Source: Ensembl
Regulation of heart contraction Source: Ensembl
Response to cytokine Source: Ensembl
Response to drug Source: Ensembl
Response to hydrogen peroxide Source: Ensembl
Response to morphine Source: Ensembl

Cellular Location

Cell membrane; Membrane

Involvement in disease

Developmental and epileptic encephalopathy 17 (DEE17):
A severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements.
Neurodevelopmental disorder with involuntary movements (NEDIM):
A neurodevelopmental disorder manifesting with a wide range of clinical symptoms. Clinical features range from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior and epileptic encephalopathy, to a milder phenotype featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia, and mild epilepsy. Hyperkinetic movements are often exacerbated by specific triggers, such as illness, emotion and high ambient temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum.

PTM

Histaminylated at Gln-205 residues by TGM2.