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Validated All-in-One™ qPCR Primer for GABBR1(NM_001470.3) Search again
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
Summary
Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the mammalian central nervous system. GABA exerts its effects through ionotropic [GABA(A/C)] receptors, to produce fast synaptic inhibition, and metabotropic [GABA(B)] receptors, to produce slow, prolonged inhibitory signals. The GABA(B) receptor consists of a heterodimer of two related 7-transmembrane receptors, GABA(B) receptor 1 and GABA(B) receptor 2. The GABA(B) receptor 1 gene is mapped to chromosome 6p21.3 within the HLA class I region close to the HLA-F gene.
Gene References into function
- Alterations in inhibitory synaptic transmission through GABA(B)R1 appears to affect differentially certain hippocampal circuits in a population of epileptic patients and could contribute to the pathophysiology of temporal lobe epilepsy.
- The intracellular loops of the GB2 subunit are crucial for G-protein coupling of the heteromeric gamma-aminobutyrate B receptor.
- evidence that the translated polymorphism of exon 7 may be functionally meaningful and impact cortical EEG oscillations
- The GABA(B[1]) polymorphism (G1465A) confers a highly increased susceptibility to temporal lobe epilepsy. Moreover, it seems to influence the severity of this common epileptic disorder
- Post hoc analyses showed an association between EEG phenotype and exon 7 genotype in normal subjects only.
- GABBR1 gene might not be a susceptibility gene for childhood absence epilepsy at least in the Chinese population
- GHB, administered in vivo, reduces MAP kinase phosphorylation via a direct activation of GABAB receptors by GHB, but was found ineffective on MAP kinase phosphorylation in brain slices
- Increased expression of GABA(B) receptor subtype 1 indicates augmented presynaptic inhibition of glutamate release as a possible protective mechanism in temporal lobe epilepsy.
- Altered GABA(B1a) receptor mRNA expression occurs in human temporal lobe epilepsy; possibly the observed changes may also serve to counteract ongoing hyperexcitability.
- GABAB receptor cell surface stability is modulated by phosphorylation and chronic agonist treatment
- GABA(B) receptor subunit GABA(B)R1 is found on the same neurons and follows the same distribution patterns in the basal ganglia as the GABABR2 receptor subunit.
- Association of the GABA(B)R1 with the GABA(A) receptor gamma2S subunit robustly promotes cell surface expression of GABA(B)R1 in the absence of GABA(B)R2, that is usually required for efficient trafficking of GABA(B)R1 to the cell surface.
- The GABA(B) receptor may be present as a heterodimer with subunits of GABA(B1) and GABA(B2) in the human colon.
- Data show that the two CCP modules of the GABA(B) 1a receptor have strikingly different structural properties, reflecting their different functions.
- The simultaneous blockade of GABAA and GABAB receptors suppressed acrosome reaction induced by follicular fluid(FF). GABA receptors may play role in sperm activation. This may shed further light on mechanism of FF action on human sperm acrosome reaction.
- identification of the minimal functional domain which still binds a competitive radioligand and leads to a functional, GABA-responding receptor when co-expressed with GABA(B2)
- The observed trends suggest that further investigations of the role of the GABBR1 gene in obsessive-compulsive disorder are warranted.
- The changes in hippocampal GBR1 may reflect alterations in the balance between excitatory and inhibitory neurotransmitter systems, which likely contributes to dysfunction of hippocampal circuitry in Alzheimer disease.
- Temporal lobe epilepsy preceded by febrile seizures is not associated with the polymorphisms or mutations in the GABBR1 gene.
- positive allosteric modulators bind a single subunit of (B) receptor (metabotropic glutamate receptor) dimers
- COPI and 14-3-3 specifically bind to the GB1 RSR sequence and that COPI is involved in its intracellular retention
- Functional GABA(B) receptors are expressed in human airway smooth muscle cells
- the Ala20Val polymorphism of the GABA(B)R1 gene may be associated with obstructive sleep apnea syndrome(OSAS);Gly489Ser polymorphism does not seem to be involved in OSAS; C/C variant of the Phe658Phe polymorphism GABA(B)R1 gene seems associated with OSAS
- CaRs and GABA-B-R subunits can form heteromeric complexes in cells, and their interactions affect cell surface expression and signaling of CaR, which may contribute to extracellular Ca(2+)-dependent receptor activation in target tissues
- Data suggest the stimulation of GABA B R signaling as a novel target for the treatment and prevention of pancreatic cancer.
- The genotype distribution varied significantly between patients and controls. Heterozygous carriers of the A-allele had a 10-fold increase in risk for MTLE-HS (OR 10.01; 95% CI 3.98-25.18, p=3.788E-08).
- no significant association between the GABBR1 c.1456G>A polymorphism and sporadic or familial temporal lobe epilepsy
- GABA may modulate an uncharacterized signaling cascade via GABA(B) receptors coupled to G(i) protein in airway epithelium
