GNAO1 Antibody – Rabbit Polyclonal

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]

G-alpha(o): 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. Interacts with RGS14. G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Belongs to the G-alpha family. G(i/o/t/z) subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: G protein, heterotrimeric alpha G((i/o/t/z)); G protein, heterotrimeric; G protein

Chromosomal Location of Human Ortholog: 16q13

Cellular Component: dendrite; heterotrimeric G-protein complex; myelin sheath; plasma membrane

Molecular Function: corticotropin-releasing hormone receptor 1 binding; G-protein beta/gamma-subunit binding; GTP binding; GTPase activating protein binding; GTPase activity; metabotropic serotonin receptor binding; metal ion binding; mu-type opioid receptor binding; signal transducer activity

Biological Process: aging; dopamine receptor signaling pathway; forebrain development; G-protein signaling, coupled to cAMP nucleotide second messenger; locomotory behavior; metabolic process; muscle contraction; negative regulation of calcium ion transport; neurite development; positive regulation of GTPase activity; protein folding; regulation of heart contraction; response to cytokine stimulus; response to drug; response to hydrogen peroxide; response to morphine; Wnt receptor signaling pathway, calcium modulating pathway

Disease: Epileptic Encephalopathy, Early Infantile, 17