gamma-aminobutyric acid type A receptor subunit delta
Annotations refreshed 8 hours ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedGeneralized epilepsy with febrile seizures-plus
epilepsy
major depressive disorder
insomnia
migraine disorder
anxiety disorder
panic disorder
Agitation
Anxiety
alcohol dependence
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Gamma-aminobutyric acid receptor subunit delta
Delta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:35355020). 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:35355020). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:35355020). GABAARs containing delta/GABRD subunits are predominantly located in extrasynaptic or perisynaptic positions on hippocampus and cerebellar granule cells, and contribute to the tonic GABAergic inhibition (By similarity). GABAAR containing alpha-4-beta-3-delta subunits can simultaneously bind GABA and histamine where histamine binds at the interface of two neighboring beta subunits, which may be involved in the regulation of sleep and wakefulness (PubMed:35355020)
Curated MONDO disease pages that list GABRD among their top associated genes.
GABRD · O14764
Mean pLDDT
79.2/ 100
Confident
452 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
