GNAO1 gene

G protein subunit alpha o1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Early infantile epileptic encephalopathy 17

From UniProt:

Epileptic encephalopathy, early infantile, 17 (EIEE17): 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. [MIM:615473]

Cytogenetic Location: 16q13, which is the long (q) arm of chromosome 16 at position 13

Molecular Location: base pairs 56,191,339 to 56,357,444 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16q13, which is the long (q) arm of chromosome 16 at position 13
  • EIEE17
  • G-ALPHA-o
  • GNAO
  • HLA-DQB1