Aliases for GNAO1 Gene
External Ids for GNAO1 Gene
Previous GeneCards Identifiers for GNAO1 Gene
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. [provided by RefSeq, Aug 2015]
GeneCards Summary for GNAO1 Gene
GNAO1 (G Protein Subunit Alpha O1) is a Protein Coding gene. Diseases associated with GNAO1 include Epileptic Encephalopathy, Early Infantile, 17 and Neurodevelopmental Disorder With Involuntary Movements. Among its related pathways are GABAergic synapse and Regulation of CFTR activity (norm and CF). GO annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is GNAI1.
UniProtKB/Swiss-Prot for GNAO1 Gene
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.
Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand binding causes a receptor conformational change, detaching the G protein and switching it 'on'.