gamma-aminobutyric acid type A receptor subunit alpha3
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Moderate Evidence (Amber)
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)migraine disorder
epilepsy
major depressive disorder
insomnia
panic disorder
Agitation
anxiety disorder
Anxiety
Seizure
alcohol dependence
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Gamma-aminobutyric acid receptor subunit alpha-3
Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:16412217, PubMed:29053855). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) (By similarity). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:16412217, PubMed:29053855). Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential, thereby reducing nerve transmission (PubMed:16412217, PubMed:29053855)
Curated MONDO disease pages that list GABRA3 among their top associated genes.
GABRA3 · P34903
Mean pLDDT
76.4/ 100
Confident
492 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
