GNAO1
Description
The GNAO1 (G protein subunit alpha o1) is a protein-coding gene located on chromosome 16.
The GNAO1 gene encodes the alpha subunit of the G(o) protein. Mutations in this gene are linked to epileptic encephalopathy. G(o) proteins are involved in various transmembrane signaling systems, but their exact function remains unclear. They are stimulated by RGS14 and form a complex with GNB1 and GNG3.
Guanine nucleotide-binding proteins (G proteins) are involved in regulating transmembrane signaling pathways. The specific function of the G(o) protein is not fully understood, but it is known to be stimulated by the protein RGS14.
GNAO1 is also known as DEE17, EIEE17, G-ALPHA-o, GNAO, HG1G, HLA-DQB1, NEDIM.
Associated Diseases
- Developmental and epileptic encephalopathy 17
- Early infantile epileptic encephalopathy
- Neurodevelopmental disorder with involuntary movements
