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Validated All-in-One™ qPCR Primer for GABRB3(NM_000814.5) Search again
Product ID:
HQP006628
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
DEE43, ECA5, EIEE43
Gene Description:
gamma-aminobutyric acid type A receptor subunit beta3
Target Gene Accession:
NM_000814.5(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 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 isoforms with distinct signal peptides have been described.
Gene References into function
- linkage disequilibrium in cleft lip +/- cleft palate
- Association between a GABRB3 polymorphism and autism
- The presence of inherited insomnia in the family of the affected individual suggests a possible link between insomnia and the mutation beta3(R192H).
- modeling of molecular configuration
- using full-length or truncated chimeric subunits it was demonstrated that homologous sequences from beta 3 are important for assembly of GABA(A) receptors composed of alpha(1), beta(3), and gamma(2) subunits
- Lack of anomalies in 15q11-q13 region may be related to small number of probands, heterogenity of studied group, and small number of studied loci and markers.
- This report indicates pronounced adaptive changes in the expression of these GABA(A) receptor subunits related to seizure activity and indicates altered assembly of GABA(A) receptors in temporal lobe epilepsy.
- No significant difference in mRNA expression is found between the control and alcoholic case groups in either the superior frontal or motor cortex for the GABA A beta 3 isoform
- Reduced expression of GABRB3 is associated with Rett, Angelman and autism
- the expression of the GABAA receptor pi subunit may play an important role in the pathogenesis of pancreatic cancer
- Our data indicated that the haplotype 'GACTCT' (p = 0.00215, frequency = 53.6%) was overtransmitted which suggests that GABRB2 is in linkage disequilibrium with schizophrenia in the Chinese Han population.
- Reduced expression of the GABRB3 gene could therefore be one potential cause for the development of Childhood Absence Epilepsy.
- alpha4beta3gamma2L receptors have unique kinetic properties that limit the range of GABA applications to which they can respond maximally.
- study failed to replicate an association of the common GABRB3 exon 1a promoter SNP rs4906902 with childhood absence epilepsy. no evidence that the common functional C-variant confers a substantial epileptogenic effect to a broad spectrum of IGE syndromes
- Altered crosstalk between RA, GABAergic, and TGF-beta signaling systems could be involved in human cleft palate fibroblast phenotype.
- finding suggested that single-nucleotide polymorphisms in GABRB3 may play a significant role in the genetic predisposition to autism spectrum disorders in the Korean population
- The results indicate that human hepatocellular carcinoma (HCC) tissues are depolarized compared with adjacent nontumor tissues, and hepatic GABAA-beta3 receptor expression is down-regulated in human HCC.
- These results suggest that MeCP2 acts as a chromatin organizer for optimal expression of both alleles of GABRB3 in neurons.
- Subjects with schizophrenia exhibited expression deficits in GABRB3.
- study found mutations of GABRA1, GABRB3, and GABRG2 appear not to play a major role in the development of familial primary dystonia
- observed no significant difference in allelic frequencies or genotypic distributions of the 11 SNPs of intron 3 of GABRB3 between patients and controls
- 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.
- histamine modulates heteromultimeric GABA(A) receptors and may thus represent an endogenous ligand for an allosteric site
- The G1- alleles of the GABRB3 in children of alcoholics were significantly higher than nonCOAs.
- gene is involved in the pathogenesis of cleft lip with or without cleft palate in the Japanese population
- Mutated GABRB3 could cause absence seizures through a gain in glycosylation of mutated exon 1a and exon 2, affecting maturation and trafficking of GABAR from endoplasmic reticulum to cell surface and resulting in reduced GABA-evoked currents.
- three distinct sets of amino acid residues in the N-terminal extracellular domain of the hbeta1 subunit, which when mutated to the homologous residue in hbeta3 allow expression as a functional homomeric receptor
- GABRB3 may contribute differently to the cleft phenotype in Iowans and in Filipinos, with a stronger effect in cases with palate involvement in Iowa, versus an effect in cases with involvement only of the lip in the Philippines.