GABRG2 Antibody
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中文名稱：GABRG2兔多克隆抗體
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貨號(hào)：CSB-PA009152GA01HU
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規(guī)格：￥3,900
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其他：
產(chǎn)品詳情
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Uniprot No.：
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基因名：GABRG2
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別名：CAE 2 antibody; CAE2 antibody; ECA 2 antibody; ECA2 antibody; GABA(A) receptor gamma 2 antibody; GABA(A) receptor subunit gamma 2 antibody; GABA(A) receptor subunit gamma-2 antibody; GABRG 2 antibody; GABRG2 antibody; Gamma aminobutyric acid (GABA) A receptor gamma 2 antibody; Gamma aminobutyric acid A receptor gamma 2 antibody; Gamma aminobutyric acid receptor gamma 2 subunit antibody; Gamma-aminobutyric acid receptor subunit gamma-2 antibody; GBRG2_HUMAN antibody; GEFSP 3 antibody; GEFSP3 antibody
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反應(yīng)種屬：Human,Mouse,Rat
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免疫原：Human GABRG2
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免疫原種屬：Homo sapiens (Human)
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抗體亞型：IgG
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純化方式：Antigen Affinity purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20oC, Avoid freeze / thaw cycles.
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產(chǎn)品提供形式：Liquid
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應(yīng)用范圍：ELISA,WB,IF
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Protocols：
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儲(chǔ)存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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貨期：Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情
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功能：Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain. Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel. The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer. The alpha1/beta2/gamma2 receptor and the alpha1/beta3/gamma2 receptor exhibit synaptogenic activity. The alpha2/beta2/gamma2 receptor exhibits synatogenic activity whereas the alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity. Functions also as histamine receptor and mediates cellular responses to histamine.
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基因功能參考文獻(xiàn)：
- Study found that the C588T polymorphism of GABARG2 is associated with an increased risk of developing childhood idiopathic generalized epilepsy and may modulate patients' response to antiepileptic drugs. PMID: 29894917
- This study demonstrated that GABRG2 expression in gamma2 in the cortical nuclei, and amygdalo-hippocampal/parahippocampal-amygdala transition areas. PMID: 29023704
- Differential GABRG2 structure disturbances are correlated with disease severity. PMID: 27762395
- A recurrent GABRG2 missense variant is associated with early-onset seizures, significant motor and speech delays, intellectual disability, hypotonia, movement disorder, dysmorphic features and vision/ocular issues. PMID: 28460589
- The aim of this case-control study is to investigate whether GABRG2 polymorphisms contribute to susceptibility for Febrile seizure and epilepsy in pooled data of three cohorts, from Malaysia (composed of Malay, Chinese, and Indian), Hong Kong, and Korea. PMID: 26452361
- Study utilized targeted next-gen sequencing to identify a novel splicing variation (NM_198903.2:c.1249-1G > T) in the GABRG2 gene of a febrile seizure (FS) patient. The potential association of ten selected genetic polymorphisms in IL1RN (86-bp VNTR), IL10 (rs1900872), PTGS2 (8 SNPs, rs689465, rs689466, rs20417, rs13306038, rs201931599, rs689470, rs4648306 and rs4648308) with FS was also examined. PMID: 27871023
- This study identified a missense de novo mutation in the GABAA receptor gamma2 subunit, P302L, in a patient with Dravet syndrome. The mutation has a novel pathogenic mechanism to cause defects in the conductance and gating of GABAA receptors, which results in hyperexcitability and contributes to the pathogenesis of the genetic epilepsy Dravet syndrome. PMID: 28197552
- This study demonstrated that rescue of PTZ seizure threshold and thalamocortical oscillations in a Gabrg2+/Q390X KI mouse model of Dravet syndrome/GEFS+ by overexpression of wild-type gamma2HA subunits. PMID: 28586508
- Defects in GABRG2/GABAergic neurotransmission participate in the pathogenesis of genetic epilepsies including epileptic encephalopathies. PMID: 27864268
- This review suggest that the pathogenesis of GABRG2 mutations is likely to be due to a combination of reduction of channel function and disturbance of cellular homeostasis due to the presence of mutant protein. PMID: 27367160
- Nova1 interacts with GABAARgamma2 not only in the central nervous system but also in hepatocellular carcinoma. Nova1's potential mechanism as an oncogene may due to its interaction with GABAA Rgamma2. PMID: 27733149
- Thus, the presence of active GABA-A receptors, associated with phenotype determination via Ca(2+)-signalling was demonstrated in differentiating human DA neurons. PMID: 27822752
- common variants of GABRG2, RELN and NRG3 and the GABRG2-RELN-PTCH1 interaction networks might confer altered susceptibility to Hirschsprung disease. PMID: 27889765
- The gamma2 was the most abundant subunit in all rhombencephalic structures during development and in adults, whereas alpha subunits showed a structure- and age-characteristic distribution. PMID: 26518133
- GABRG2, in combination with GABRA4, is associated with autism spectrum disorder in an Argentine dataset. PMID: 26239769
- This study demonstrated that in vivo cortical and thalamic measurements in a mouse model of human genetic childhood absence epilepsy and febrile seizures carrying a point mutation in the gamma2 subunit of the GABA(A) receptor PMID: 25731747
- Deletion of the N-terminal extension and putative alpha-helix in heteromeric alpha1beta2gamma2 GABAA receptors in the gamma2 subunits reduced the number of functional receptors and incorporation into mature receptors. PMID: 26016529
- Mutant GABRG2 may be responsible for genetic epilepsy as well neurodegeneration. PMID: 26005849
- Mutations of the GABRG2 gene may increase the risk of rolandic epilepsy. PMID: 25726841
- This study demonistrated that epilepsy-associated mutations N79S, R82Q and P83S disrupted GABAA receptor assembly to different extents, an effect that could be potentially rescued by facilitating protein folding and assembly. PMID: 24798517
- These results present no evidence for an association of rs211037 with JME. Further studies are required to investigate the involvement of the GABRG2 gene in the genetic susceptibility to this epileptic syndrome. PMID: 23287319
- Study investigated the pathogenesis of febrile seizures by determining how the gamma2 subunit mutation, R177G, altered GABAA receptor biogenesis and physiological properties PMID: 24874541
- Heterozygous gamma-aminobutyric acid A receptor gamma2 subunit (R43Q) mutation may have an effect in the development of febrile seizures PMID: 24630281
- results suggest that gamma-aminobutyric acid receptor, gamma2 subtype may be involved in suicidal behaviour in schizophrenia patients with alcohol dependence or abuse. PMID: 24776921
- The results demonstrated that a nonsense mutation of GABRG2 found in a severe epilepsy phenotype results in abnormal intracellular trafficking of GABAA receptors. PMID: 24480790
- study found a novel GABRG2(p.R136*) mutation, which extends the spectrum of GABRG2 mutations identified in generalised epilepsy with febrile seizures plus and genetic generalised epilepsy phenotypes, causes GABAA receptor dysfunction, and represents a putative epilepsy mechanism PMID: 24407264
- Data show that spike-and-wave discharge-free mice harboring the Gabrg2 R43Q mutation had no spatial learning deficit PMID: 24368169
- A dynamic regulation of the intracellular trafficking of GABA(A) receptors and its involvement in the pathophysiology of epilepsy. (review) PMID: 24912277
- study could substantiate that among the GABA(A) receptor subunit gene cluster polymorphisms, the GABRG2, rs211037 predisposes susceptibility to epilepsy, irrespective of its phenotype, but not to antiepileptic drug resistance PMID: 24061200
- The results of this study proposed that stability of trafficking-deficient mutant gamma2 subunits may be a phenotype modifier in the associated genetic epilepsies PMID: 23720301
- GABRG2 (SNP211037)-C allele could be a suitable marker for prediction of susceptibility to febrile seizures (FS) in Egyptian children. The frequency of CC genotype of GABRG2 gene was higher in children with FS compared to healthy children. PMID: 21983990
- This study showed significant association of GABRG2 rs211037 with susceptibility to febrile seizure. PMID: 23140995
- the changes in the steepness of the concentration-response relationship for GABA in the N40S receptor may trigger epilepsy. PMID: 23257655
- The purpose of the study was to explore the pathogenic mechanisms underlying generalized epilepsy and febrile seizures plus (GEFS+) in a family with a novel gamma2 subunit gene (GABRG2) frameshift mutation. PMID: 23069679
- The results indicated that the GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome, engaged the cellular quality control machinery to activate nonsense mediated mRNA decay to decrease mutant mRNA levels and produced a truncated signal peptide that was not incorporated into functional receptors. PMID: 22750526
- Although GABRG2 has been found to be involved in febrile seizures and there is some co-morbidity between epilepsy and migraine, a role for the tested GABRG2 variant in migraine is not supported. PMID: 22572707
- GABRG2 C588T gene polymorphisms plays a role in seizure occurence. PMID: 22239287
- The interaction between midazolam and propofol is affected by receptor subtype, and protein kinase phosphorylation influences their interaction on the alpha(1)beta(2)gamma(2)L receptor. PMID: 21474657
- The results of this study suggested that the GABRG2 mutation, IVS6+2T-->G, reduced surface alphabetagamma2 receptor levels, thus reducing GABAergic inhibition, by reducing GABRG2 transcript level and producing a stable, nonfunctional truncated subunit. PMID: 22539854
- Mutation analysis of the SCN1B, SCN1A and GABRG2 genes in children affected by Genetic (Generalised) Epilepsy with Febrile Seizures plus was performed PMID: 22011963
- results from this study do not provide support for the hypothesis of linkage disequilibrium between the GABAA receptor-gamma2 gene and obsessive-compulsive disorder. PMID: 20098824
- Internalization of GABA(A) receptor gamma2 is not associated with the cellular mechanism underlying febrile seizure genesis in patients with a missense mutation at this receptor. PMID: 21219304
- GABRG2 subunit expression decreases with age in patient with pediatric epilepsy. PMID: 20132297
- this study further investigates the role of GABRG2 in the pathogenesis of childhood epilepsy PMID: 20485450
- truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus PMID: 11748509
- The GABRG2 gene seems to confer a rare, rather than frequent, major susceptibility effect to common idiopathic absence epilepsy syndromes. PMID: 12117362
- 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 PMID: 12367595
- GABRG2 gene might be neither a susceptibility gene for CAE nor in linkage disequilibrium with disease-predisposing sites in the Chinese population PMID: 12384214
- GABRG2 gene might be one of the susceptibility factors for febrile seizures PMID: 12672902
- No difference in allele frequency observed for severe myoclonic epilepsy of infancy patients compared to control population. PMID: 12694927
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相關(guān)疾病：Epilepsy, childhood absence 2 (ECA2); Febrile seizures, familial, 8 (FEB8); Generalized epilepsy with febrile seizures plus 3 (GEFS+3)
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亞細(xì)胞定位：Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cell projection, dendrite. Cytoplasmic vesicle membrane.
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蛋白家族：Ligand-gated ion channel (TC 1.A.9) family, Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily, GABRG2 sub-subfamily
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