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Validated All-in-One™ qPCR Primer for GABRA1(NM_001127643.2) Search again
Product ID:
HQP154092
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
DEE19, ECA4, EIEE19, EJM, EJM5
Gene Description:
gamma-aminobutyric acid type A receptor subunit alpha1
Target Gene Accession:
NM_001127643.2(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.
Summary
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq].
Gene References into function
- modeling of molecular configuration
- using full-length or truncated chimeric subunits it was demonstrated that homologous sequences from alpha 1 are important for assembly of GABA(A) receptors composed of alpha(1), beta(3), and gamma(2) subunits
- a role for tryptophan (Trp) residues at the extracellular end of fourth transmembrane segment(TM4) in anesthetic modulation of GABA(A) receptors.
- Optimal gating is dependent on electrostatic interactions between the negatively charged Asp 57 and Asp 149 residues in extracellular loops 2 and 7, and the positively charged Lys 279 residue in the transmembrane 2-3 linker region of the alpha1-subunit
- Among polymorphic SNPs, significant differences between methamphetamine users and controls are found in the female sample of GABA(A)alpha1 subunit gene, and the novel SNP in the GABA(A)gamma2 subunit gene. No associations were found in the male sample.
- Properties of recombinant GABRA1 receptor vary significantly from one expression system to another most likely due to differences in endogenous modulators.
- GABA acts through GABA(A) receptors containing the alpha(1) subunit on specific striatal GABAergic interneurons and on output neurons of the globus pallidus and substantia nigra pars reticulata.
- The mutated (A294D) GABAA receptor alpha 1 subunit reduces GABA sensitivity of the receptor, increases the deactivation rate and slows desensitization, causing a reduction in channel open time but no change in single channel conductance.
- Two etomidate sites allosterically enhance GABA(A) receptor subunit gating independently of agonist binding.
- extracellular domain models show subunit arrangement of GABA-A receptors
- alpha1 and alpha6 subunits immobilize recombinant GABA A receptor in transfected cells
- whole-cell currents and protein expression of heterozygous 1(A322D)2S2S receptors depended on the position of the mutant 1 subunit
- The A322D mutation leads to a severe loss-of-function of the human GABAA receptor by several mechanisms, including reduced surface expression, reduced GABA-sensitivity, and accelerated deactivation.
- The mechanism of reduced total and surface alpha1 subunit expression associated with an aspartate substitution in the GABA-A receptor alpha1 subunit is reported.
- Derepression of GABAAR-alpha1 expression upon downregulation of c-myc represents a unique apoptotic mechanism and a distinct function for the alpha1 subunit, independent of its role as a component of the GABAAR in the plasma membrane.
- 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.
- Since the 156T>C variant appears to be not pathogenically relevant, our results suggest that missense, nonsense or splice site mutation in the coding region of the GABRA1 gene is not a major genetic cause of ET in Caucasian subjects.
- 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
- polymorphisms of the GABAA alpha1 and GABAA alpha6 receptor gene may be associated with the development of alcoholism and the GG genotype of the GABAA alpha1 receptor may cause early onset and a severe type of alcoholism
- association between GABRA1 and alcohol dependence, history of blackouts, age at first drunkenness, and level of response to alcohol
- the prefrontal and temporal cortex of ALS patients, we detected significantly reduced mRNA expression of the alpha1-subunit, while the GABA synthesizing enzyme glutamic acid decarboxylase (GAD) was significantly upregulated in these regions.
- An intrinsic deficiency of GABA(A) receptor endogenous phosphorylation results in an increased lability of GABAergic currents in neurons isolated from epileptogenic human tissue.
- The GABAA receptor alpha1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation.
- study found mutations of GABRA1, GABRB3, and GABRG2 appear not to play a major role in the development of familial primary dystonia
- In this case of juvenile myoclonic epilepsy , A molecular genetic analysis led to the identification of a polymorphism (T-->C) of the exon of the GABRA1 gene, without aminoacidic exchange.
- 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.
- GABAA receptor alpha1-subunit epilepsy mutation A322D results in receptors that are inserted into the plasma membrane but are more rapidly endocytosed by a dynamin and caveolin1-dependent mechanism
- Increased expression of DNMT-3B mRNA and protein in the frontopolar cortex of suicide victims was correlated with increased DNA methylation of the GABAA receptor alpha(1) subunit.
- the Cys-loop receptor aspartate residue in the M3-M4 cytoplasmic loop is required for GABAA receptor assembly
- BDNF- and seizure-dependent phosphorylation of STAT3 cause the adenosine 3',5'-monophosphate (cAMP) response element-binding protein (CREB) family member ICER (inducible cAMP early repressor) to bind with phosphorylated CREB at the Gabra1:CRE site.