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In this study, we performed exome sequencing in six patients with SCN1A (show SCN1A Proteins)-negative Dravet syndrome to identify other genes related to this disorder..the data in this study identify GABRB3 as a candidate gene for Dravet syndrome
Results indicate that GABRB3 mutations are associated with a broad phenotypic spectrum of epilepsies and that reduced receptor function causing GABAergic disinhibition represents the relevant disease mechanism
GABRB3 might be associated with heroin dependence, and increased expression of GABRB3 might contribute to the pathogenesis of heroin dependence
Findings provide genetic evidence for the involvement of the genes GABRB3 and GABRA5 (show GABRA5 Proteins) in the susceptibility to panic disorder
Increased GABRB3 expression may confer an increased risk of schizophrenia.
1,2-dichlorohexafluorocyclobutane enhancement of GABRA5 (show GABRA5 Proteins) activity is abolished by GABRB3 mutations.
Propofol, AziPm, and o-PD Inhibit [3H]Azietomidate and R-[3H]mTFD-MPAB Photolabeling of alpha1beta3 GABAAR (show GABRG2 Proteins).
Considering our Argentinean ASD sample, it can be inferred that GABRB3 would be involved in the etiology of autism through interaction with GABRD. These results support the hypothesis that GABAR subunit genes are involved in autism.
Specificity of intersubunit general anesthetic-binding sites in the transmembrane domain of the human alpha1beta3gamma2 gamma-aminobutyric acid type A (GABAA (show GABRg1 Proteins)) receptor.
With a weak association, data do not support the hypothesis that the GABRB3 variants are a cause of nonsyndromic cleft lip and/or palate
These results suggest that impairment in GABRB3 downregulates OCA2 and indirectly causes ocular hypopigmentation and visual defects in Angelman syndrome (show ube3a Proteins) (AS) and Prader-Willi syndrome
In Gabrb3 mutant cerebellar nuclei cells, inhibitory postsynaptic current kinetics were unchanged, but mutant males, unlike females, showed enlarged glutamine receptor 1/5 responses and accelerated spontaneous firing.
Dysregulation of fragile X mental retardation protein (show NUFIP2 Proteins)-metabotropic glutamate receptor 5 (show GRM5 Proteins) signaling pathway, accompanied with a downregulation of GABA(A) receptor beta3 subunit expression, may contribute to the 'autistic-like' features knockout mice.
The data presented here support the hypothesis that alpha5beta3-GABAARs underlie tonic inhibition in hippocampal CA1 (show CA1 Proteins) pyramidal cells
These studies identify a novel gephyrin (show GPHN Proteins)-binding motif in GABA(A) R beta2 and beta3 large cytoplasmic loops.
Data indicate that the expression levels of [beta]2/3 GABAAR (show GABRG2 Proteins) showed 2.81 +/- 0.08-fold and 3.83 +/- 0.07-fold increases, respectively, in the pancreatectomized mice 3 and 14 days after surgery.
It was show nthat activation of L-type voltage-gated Ca2 (show CA2 Proteins)+ channels leads to Ca2+/calmodulin-dependent protein kinase II (show CAMK2G Proteins) phosphorylation of S383 within the beta3 subunit of the GABAA (show GABRg1 Proteins) receptor.
The endogenous sleep pathway in the hypothalamus operates through the beta1- containing GABAAR (show GABRG2 Proteins) whereas inhibition of neuronal firing (anaesthesia) by low propofol doses relies on beta3- containing GABAAR (show GABRG2 Proteins).
Suggest that forebrain Gabrb3 contributes to hippocampal-dependent memory suppression by isoflurane, but not etomidate.
Mice heterozygous for Gabrb3 exhibited an increase in seizure susceptibility and sensitivity to touch and heat.
This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one of at least 13 distinct subunits of a multisubunit chloride channel that serves as the receptor for gamma-aminobutyric acid, the major inhibitory transmitter of the nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two genes encoding related subunits of the family. Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described.
gamma-aminobutyric acid (GABA) A receptor, beta 3
, gamma-aminobutyric acid receptor subunit beta-3
, gamma-aminobutyric acid A receptor beta 3
, gamma-aminobutyric acid receptor subunit beta-3-like
, GABA-alpha receptor beta-2 subunit
, GABAA receptor beta-3 subunit
, GABA(A) receptor subunit beta-3
, Gamma-aminobutyric acid receptor beta 3
, gamma-aminobutyric acid (GABA-A) receptor, subunit beta 3
, gamma-aminobutyric acid receptor, subunit beta 3
, testis gamma-aminobutyric acid receptor subunit beta 3
, GABA-A receptor beta-3 subunit
, cleft palate 1