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 Neurodevelopmental Disorder With Involuntary Movements and Developmental And Epileptic Encephalopathy 17. Among its related pathways are Corticotropin-releasing hormone signaling pathway and G-Beta Gamma Signaling. Gene Ontology (GO) annotations related to this gene include GTP binding and obsolete signal transducer activity. An important paralog of this gene is GNAI1.
UniProtKB/Swiss-Prot Summary 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'.