Gene Symbol | GNAO1 |
Entrez Gene ID | 2775 |
Full Name | G protein subunit alpha o1 |
Synonyms | EIEE17,G-ALPHA-o,GNAO,HLA-DQB1,NEDIM |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Epileptic encephalopathy, early infantile, 17, 615473 (3); Neurodevelopmental disorder with involuntary movements, 617493 (3) |