AlphaFold predicted structure
GABRB1 · P18505

Mean pLDDT
77.5/ 100
Confident
474 residues
Confidence breakdown
- Very high(≥ 90)56%
- Confident(70–90)13%
- Low(50–70)8%
- Very low(< 50)23%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
gamma-aminobutyric acid type A receptor subunit beta1
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinteddevelopmental and epileptic encephalopathy, 45
major depressive disorder
epilepsy
insomnia
migraine disorder
panic disorder
anxiety disorder
Agitation
alcohol dependence
Anxiety
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Gamma-aminobutyric acid receptor subunit beta-1
Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:10449790, PubMed:16412217, PubMed:26950270). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain one or two GABA active binding sites located at the alpha and beta subunit interfaces, depending on subunit composition (By similarity). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:10449790, PubMed:16412217, PubMed:26950270). 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:26950270). Beta-containing GABAARs 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 (By similarity)
Curated MONDO disease pages that list GABRB1 among their top associated genes.
GABRB1 · P18505

Mean pLDDT
77.5/ 100
Confident
474 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0