gamma-aminobutyric acid type A receptor subunit alpha5
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknowngenetic developmental and epileptic encephalopathy
Seizure
epilepsy
major depressive disorder
migraine disorder
panic disorder
insomnia
Anxiety
anxiety disorder
Agitation
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Gamma-aminobutyric acid receptor subunit alpha-5
Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:14993607, PubMed:29961870, PubMed:30140029, PubMed:31056671). 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) (PubMed:30140029). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:14993607, PubMed:30140029). GABAARs containing alpha-5/GABRA5 subunits are mainly extrasynaptic and contribute to the tonic GABAergic inhibition in the hippocampus (By similarity). Extrasynaptic alpha-5-containing GABAARs in CA1 pyramidal neurons play a role in learning and memory processes (By similarity)
Curated MONDO disease pages that list GABRA5 among their top associated genes.
GABRA5 · P31644
Mean pLDDT
81.0/ 100
Confident
462 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
