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Validated All-in-One™ qPCR Primer for GABRG2(NM_000816.2) Search again
Product ID:
HQP006651
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
CAE2, DEE74, ECA2, EIEE74, FEB8, GEFSP3
Gene Description:
gamma-aminobutyric acid type A receptor subunit gamma2
Target Gene Accession:
NM_000816.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
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:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene.
Gene References into function
- truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus
- The GABRG2 gene seems to confer a rare, rather than frequent, major susceptibility effect to common idiopathic absence epilepsy syndromes.
- modeling of molecular configuration
- using full-length or truncated chimeric subunits it was demonstrated that homologous sequences from gamma2 are important for assembly of GABA(A) receptors composed of alpha(1), beta(3), and gamma(2) subunits
- GABRG2 gene might be neither a susceptibility gene for CAE nor in linkage disequilibrium with disease-predisposing sites in the Chinese population
- GABRG2 gene might be one of the susceptibility factors for febrile seizures
- No difference in allele frequency observed for severe myoclonic epilepsy of infancy patients compared to control population.
- In the polymorphic SNPs, significant differences between methamphetamine users and controls were identified in the female sample of the GABA(A)alpha1 subunit gene, and novel SNP in GABA(A)gamma2 subunit gene. No associations were found in the male sample
- Ser171 and Tyr172 in the GABAA receptor gamma2 subunit constitute a critical motif for access to the cell surface
- Properties of recombinant GABRG2 receptor vary significantly from one expression system to another most likely due to differences in endogenous modulators.
- serine 171 may play a critical role in the formation and stabilization of an exposed turn structure that is part of the subunit interaction site.
- 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.
- Human gamma 2L subunit is capable of forming fully functional GABA receptors by itself in Xenopus oocytes.
- Two etomidate sites allosterically enhance GABA(A) receptor subunit gating independently of agonist binding.
- extracellular domain models show subunit arrangement of GABA-A receptors
- Gaba A receptor gamma 1/3 immunolabeling in prefrontal cortex of bipolar disorder subjects was more intense than controls and schizophrenics. There was a significant increase in gamma 1 subunit in bipolar subjects, with no difference in schizophrenics.
- the GABAA receptor mutation linked to human epilepsy (gamma2R43Q) impairs cell surface expression of alphabetagamma receptors
- The GABAA receptor gamma2 subunit R43Q mutation impaired GABA(A) receptor function by compromising receptor trafficking and reducing surface expression.
- Models of GABA(A) receptors composed of alpha1 beta3 gamma2 subunits were generated and were used for predicting putative engineered cross-link sites between the alpha1 and the gamma2 subunit.
- a conserved lysine in the TM2-3 of alpha1, beta2, and gamma2 of the GABA-A receptor has an asymmetric function in different GABAA subunits
- Our results suggest that common variants of strong effect in GABRG2 do not appear to play a role in the development of common, complex forms of epilepsy.
- alpha4beta3gamma2L receptors have unique kinetic properties that limit the range of GABA applications to which they can respond maximally.
- the gamma2 subunit of the GABA receptor gene might be one of the susceptibility factors for idiopathic generalized epilepsies
- In south china, the K289M mutation and single-nucleotide polymorphism rs211014 of the GABRD2 gene not releate to children with febrile seizures.
- study found mutations of GABRA1, GABRB3, and GABRG2 appear not to play a major role in the development of familial primary dystonia
- This suggests that mutations in the GABRG2 gene is not a prevalent cause of familial cases of FS and epilepsy or GEFS+ in Scandinavia.
- In the SNr GABA(A) receptors contain alpha(1), alpha(3), beta(2,3), and gamma(2) subunits and are localized in a weblike network over the cell soma, dendrites, and spines of SNr parvalbumin-positive nonpigmented neurons.
- Febrile Seizure is not related to the most common mutations of GABRG2 in two Tunisian families
- built homology models of the ion pores of alpha1beta2 and alpha1beta2gamma2 GABA(A)-R using coordinates of the nicotinic acetylcholine receptor as a template to determine details about the zinc binding site
- Using wild type/mutated receptor subunits to identify compounds with anesthetic effect.
- Novel ligand-gated gamma aminobutyric acid receptor(GABRG)2 and sodium channel voltage-gated type I alpha subunit (SCN1A) gene mutations are found in two unrelated Chinese families with generalized epilepsy with febrile seizures plus (GEFS+).
- Seizure susceptibility was significantly reduced in mice where the GABRG2 Q43 allele was suppressed during development.
- the mutation of the GABA(A)-receptor gamma 2 subunit gene (GABRG2) in a Chinese family with generalized epilepsy with febrile seizures plus (GEFS+ ) and the genotype-phenotype correlations and its inheritance