Introduction of GABRB3
Gamma-aminobutyric acid receptor subunit beta-3 (GABRB3), also known as GABA(B) receptor subunit beta-3, is a protein that in humans is encoded by the GABRB3 gene. It is located within the 15q12 region in the human genome and spans 250kb. As a member of the GABA receptors, GABRB3 is expressed at different levels within the cerebral cortex, hippocampus, cerebellum, thalamus, olivary body and piriform cortex of the brain at different points of development and maturity.
|Basic Information of GABRB3|
|Protein Name||Gamma-aminobutyric acid receptor subunit beta-3|
|Aliases||GABA(B) receptor subunit beta-3|
|Organism||Homo sapiens (Human)|
Function of GABRB3 Membrane Protein
Gamma-aminobutyric acid type A (GABAA) receptors are ligand-gated chloride channels that act as the primary mediators of fast inhibitory synaptic transmission in the central nervous system. They belong to the Cys-loop superfamily and are formed by pentameric assemblies of different subunit subtypes: α1-α6, β1-β3, γ1-γ3, δ, ε, π, θ, and ρ1-ρ3. As a member of the GABA receptors, GABRB3 is an important neurodevelopmental gene and is abundantly expressed in the early mammalian brain. Its encoded β3 subunit is important for GABAA receptor assembly, trafficking and brain development, including stem cell proliferation. Studies have shown that reduced GABRB3 expression is associated with the pathogenesis of absence seizures, abnormal sensory processing, and other neurodevelopmental disorder phenotypes such as Angelman syndrome, autism spectrum disorders, and intellectual disability. Furthermore, single nucleotide polymorphisms and missense mutations in GABRB3 have previously been implicated in childhood absence epilepsy.
Fig.1 Schematic representation showing the γ-aminobutyric acid (GABAA) receptor subunit biogenesis, assembly, and trafficking. (Kang, 2016)
Application GABRB3 of Membrane Protein in Literature
This article suggests that de novo GABRB3 mutations may cause neonatal-onset EIMFS with early-onset hypotonia, respiratory distress, and severe developmental delay.
The study aims to investigate whether schizophrenia occurrence is associated with polymorphisms in the 5' regulatory region of GABRB3. It suggests that rs4906902 and rs8179184 in the 5' promoter region of GABRB3 are associated with schizophrenia. The C-A haplotype may entail an increased risk of schizophrenia, and the onset of schizophrenia may be gender-specific.
This article identifies a novel nonsense mutation (C.5G>A) in the exon 1 of GABRB3 gene, which may be associated with early-onset epileptic encephalopathy.
This article suggests that GABRB3 may act as a candidate gene for the Dravet syndrome.
This article indicates 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.
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