ABAT

Summary

Gene Symbol: ABAT
Description: 4-aminobutyrate aminotransferase
Alias: GABA-AT, GABAT, NPD009, 4-aminobutyrate aminotransferase, mitochondrial, (S)-3-amino-2-methylpropionate transaminase, 4-aminobutyrate transaminase, GABA aminotransferase, GABA transaminase, GABA transferase, gamma-amino-N-butyrate transaminase
Species: human
Products:     ABAT

Top Publications

  1. Jia P, Wang L, Meltzer H, Zhao Z. Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data. Schizophr Res. 2010;122:38-42 pubmed publisher
    ..The genes involved in these pathways had not been detected by single marker analysis, suggesting this approach may complement the original analysis of GWAS dataset. ..
  2. Jaeken J, Casaer P, De Cock P, Corbeel L, Eeckels R, Eggermont E, et al. Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism. Neuropediatrics. 1984;15:165-9 pubmed
    ..Postmortem examination of his brain showed leukodystrophy of the type seen in amino acidopathies such as phenylketonuria. This appears to be the first report of gamma-aminobutyric acid-transaminase deficiency. ..
  3. Medina Kauwe L, Tobin A, De Meirleir L, Jaeken J, Jakobs C, Nyhan W, et al. 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. J Inherit Metab Dis. 1999;22:414-27 pubmed
    ..Genomic Southern analysis revealed that the second proband most likely harbours a deletion in the 3' region of the GABA-T gene. ..
  4. Mick E, McGough J, Deutsch C, Frazier J, Kennedy D, Goldberg R. Genome-wide association study of proneness to anger. PLoS ONE. 2014;9:e87257 pubmed publisher
    ..These results suggest that signaling pathways regulating intracellular calcium homeostasis, which are relevant to memory, learning, and neuronal survival, may in part underlie the expression of Angry Temperament. ..
  5. Jansen M, Sas L, Sieuwerts A, Van Cauwenberghe C, Ramirez Ardila D, Look M, et al. Decreased expression of ABAT and STC2 hallmarks ER-positive inflammatory breast cancer and endocrine therapy resistance in advanced disease. Mol Oncol. 2015;9:1218-33 pubmed publisher
    ..A metagene of six genes including the genes encoding for 4-aminobutyrate aminotransferase (ABAT) and Stanniocalcin-2 (STC2) were identified to distinguish 22 ER+ IBC from 43 ER+ nIBC patients and remained ..
  6. Kim D, Yoon C, Eum W, Lee B, An J, Lee S, et al. Site-directed mutagenesis of human brain GABA transaminase: lysine-357 is involved in cofactor binding at the active site. Mol Cells. 2004;18:314-9 pubmed
    ..These results indicate that lysine 357 is essential for catalytic function, and is involved in binding PLP at the active site. ..
  7. Cohen B. GABA-transaminase, the liver and infantile autism. Med Hypotheses. 2001;57:673-4 pubmed
    ..due to abnormal development of the axon(s) in the corpus callosum. ..
  8. Farthing C, Farthing D, Gress R, Sweet D. Determination of l-glutamic acid and γ-aminobutyric acid in mouse brain tissue utilizing GC-MS/MS. J Chromatogr B Analyt Technol Biomed Life Sci. 2017;1068-1069:64-70 pubmed publisher
    ..investigate the effects of deletion of organic anion transporter 1 (Oat1) or Oat3 on murine CNS levels of GA and GABA at 3 and 18 mo of age, as compared to age matched wild-type (WT) animals...
  9. Mascarenhas R, Le H, Clevenger K, Lehrer H, Ringe D, Kelleher N, et al. Selective Targeting by a Mechanism-Based Inactivator against Pyridoxal 5'-Phosphate-Dependent Enzymes: Mechanisms of Inactivation and Alternative Turnover. Biochemistry. 2017;56:4951-4961 pubmed publisher
    ....
  10. Zhang B, Yuan Y, Jia Y, Yu X, Xu Q, Shen Y, et al. An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia. Eur Psychiatry. 2005;20:45-9 pubmed
    ..Phosphate-activated glutaminase (GLS), glutamine synthetase (GLUL), glutamic acid decarboxylase (GAD), GABA transaminase (ABAT) and succinic semialdehyde dehydrogenase (ALDH5A1) are five primary enzymes in glutamate and GABA ..

Detail Information

Publications44

  1. Jia P, Wang L, Meltzer H, Zhao Z. Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data. Schizophr Res. 2010;122:38-42 pubmed publisher
    ..The genes involved in these pathways had not been detected by single marker analysis, suggesting this approach may complement the original analysis of GWAS dataset. ..
  2. Jaeken J, Casaer P, De Cock P, Corbeel L, Eeckels R, Eggermont E, et al. Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism. Neuropediatrics. 1984;15:165-9 pubmed
    ..Postmortem examination of his brain showed leukodystrophy of the type seen in amino acidopathies such as phenylketonuria. This appears to be the first report of gamma-aminobutyric acid-transaminase deficiency. ..
  3. Medina Kauwe L, Tobin A, De Meirleir L, Jaeken J, Jakobs C, Nyhan W, et al. 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. J Inherit Metab Dis. 1999;22:414-27 pubmed
    ..Genomic Southern analysis revealed that the second proband most likely harbours a deletion in the 3' region of the GABA-T gene. ..
  4. Mick E, McGough J, Deutsch C, Frazier J, Kennedy D, Goldberg R. Genome-wide association study of proneness to anger. PLoS ONE. 2014;9:e87257 pubmed publisher
    ..These results suggest that signaling pathways regulating intracellular calcium homeostasis, which are relevant to memory, learning, and neuronal survival, may in part underlie the expression of Angry Temperament. ..
  5. Jansen M, Sas L, Sieuwerts A, Van Cauwenberghe C, Ramirez Ardila D, Look M, et al. Decreased expression of ABAT and STC2 hallmarks ER-positive inflammatory breast cancer and endocrine therapy resistance in advanced disease. Mol Oncol. 2015;9:1218-33 pubmed publisher
    ..A metagene of six genes including the genes encoding for 4-aminobutyrate aminotransferase (ABAT) and Stanniocalcin-2 (STC2) were identified to distinguish 22 ER+ IBC from 43 ER+ nIBC patients and remained ..
  6. Kim D, Yoon C, Eum W, Lee B, An J, Lee S, et al. Site-directed mutagenesis of human brain GABA transaminase: lysine-357 is involved in cofactor binding at the active site. Mol Cells. 2004;18:314-9 pubmed
    ..These results indicate that lysine 357 is essential for catalytic function, and is involved in binding PLP at the active site. ..
  7. Cohen B. GABA-transaminase, the liver and infantile autism. Med Hypotheses. 2001;57:673-4 pubmed
    ..due to abnormal development of the axon(s) in the corpus callosum. ..
  8. Farthing C, Farthing D, Gress R, Sweet D. Determination of l-glutamic acid and γ-aminobutyric acid in mouse brain tissue utilizing GC-MS/MS. J Chromatogr B Analyt Technol Biomed Life Sci. 2017;1068-1069:64-70 pubmed publisher
    ..investigate the effects of deletion of organic anion transporter 1 (Oat1) or Oat3 on murine CNS levels of GA and GABA at 3 and 18 mo of age, as compared to age matched wild-type (WT) animals...
  9. Mascarenhas R, Le H, Clevenger K, Lehrer H, Ringe D, Kelleher N, et al. Selective Targeting by a Mechanism-Based Inactivator against Pyridoxal 5'-Phosphate-Dependent Enzymes: Mechanisms of Inactivation and Alternative Turnover. Biochemistry. 2017;56:4951-4961 pubmed publisher
    ....
  10. Zhang B, Yuan Y, Jia Y, Yu X, Xu Q, Shen Y, et al. An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia. Eur Psychiatry. 2005;20:45-9 pubmed
    ..Phosphate-activated glutaminase (GLS), glutamine synthetase (GLUL), glutamic acid decarboxylase (GAD), GABA transaminase (ABAT) and succinic semialdehyde dehydrogenase (ALDH5A1) are five primary enzymes in glutamate and GABA ..
  11. Solís González C, Domínguez Malfavón L, Vargas Suárez M, Gaytán I, Cevallos M, Lozano L, et al. Novel Metabolic Pathway for N-Methylpyrrolidone Degradation in Alicycliphilus sp. Strain BQ1. Appl Environ Microbiol. 2018;84: pubmed publisher
    ..If GABA is produced, the activity of a GABA aminotransferase (GABA-AT), not encoded in the nmp gene cluster, is needed to generate SSA...
  12. Bonatsou S, Iliopoulos V, Mallouchos A, Gogou E, Oikonomopoulou V, Krokida M, et al. Effect of osmotic dehydration of olives as pre-fermentation treatment and partial substitution of sodium chloride by monosodium glutamate in the fermentation profile of Kalamata natural black olives. Food Microbiol. 2017;63:72-83 pubmed publisher
    ..Finally, the sensory assessment of fermented olives with/without osmotic dehydration and at all levels of MSG did not show any deviation compared to the control treatment. ..
  13. De Biase D, Barra D, Simmaco M, John R, Bossa F. Primary structure and tissue distribution of human 4-aminobutyrate aminotransferase. Eur J Biochem. 1995;227:476-80 pubmed
    ..The human cDNA was used to probe for the presence of 4-aminobutyrate aminotransferase mRNA in human tissues and a significant transcript was found in heart, placenta and in tissues usually associated with the expression of this enzyme. ..
  14. Louro P, Ramos L, Robalo C, Cancelinha C, Dinis A, Veiga R, et al. Phenotyping GABA transaminase deficiency: a case description and literature review. J Inherit Metab Dis. 2016;39:743-747 pubmed publisher
    ..It is caused by mutations in the ABAT gene, which encodes 4-aminobutyrate transaminase, an enzyme of GABA catabolism and mitochondrial nucleoside salvage...
  15. Taylor Wells J, Senan A, Bermudez I, Jones A. Species specific RNA A-to-I editing of mosquito RDL modulates GABA potency and influences agonistic, potentiating and antagonistic actions of ivermectin. Insect Biochem Mol Biol. 2017;93:1-11 pubmed publisher
    ..For example, ivermectin potentiated currents induced by GABA at the EC20 concentration in the unedited isoform but not in the fully edited variant...
  16. Li C, Wang Q, Ma J, Shi S, Chen X, Yang H, et al. Integrative Pathway Analysis of Genes and Metabolites Reveals Metabolism Abnormal Subpathway Regions and Modules in Esophageal Squamous Cell Carcinoma. Molecules. 2017;22: pubmed publisher
    ..Several prognostic genes, including GPT, ALDH1B1, ABAT, WBSCR22 and MDH1, appeared in the three center modules of the network, suggesting that they can become potentially ..
  17. Sahu M, Siddiqui N, Iqbal R, Sharma V, Wakode S. Design, synthesis and evaluation of newer 5,6-dihydropyrimidine-2(1H)-thiones as GABA-AT inhibitors for anticonvulsant potential. Bioorg Chem. 2017;74:166-178 pubmed publisher
    ..42μM and 19.23μM, respectively. The molecular modeling was performed for all the synthesized compounds. The docking results were found in concordant with the observed animal studies. ..
  18. Cocco A, Rönnberg A, Jin Z, André G, Vossen L, Bhandage A, et al. Characterization of the γ-aminobutyric acid signaling system in the zebrafish (Danio rerio Hamilton) central nervous system by reverse transcription-quantitative polymerase chain reaction. Neuroscience. 2017;343:300-321 pubmed publisher
    ..GABAB receptors, transporters, glutamate decarboxylases (gads) and 4-aminobutyrate aminotransferase (abat), and associated proteins...
  19. Wegerer M, Adena S, Pfennig A, Czamara D, Sailer U, Bettecken T, et al. Variants within the GABA transaminase (ABAT) gene region are associated with somatosensory evoked EEG potentials in families at high risk for affective disorders. Psychol Med. 2013;43:1207-17 pubmed publisher
    ..response strength 170-370 ms after stimulation) and four single nucleotide polymorphisms within the GABA transaminase (ABAT) gene region coding for a protein responsible for GABA degradation...
  20. Osei Y, Churchich J. Screening and sequence determination of a cDNA encoding the human brain 4-aminobutyrate aminotransferase. Gene. 1995;155:185-7 pubmed
    ..Using the GenBank and EMBL databases, comparison of the predicted amino-acid sequence of hGaba-t with the pig enzyme revealed 95.4% homology. ..
  21. Barnby G, Abbott A, Sykes N, Morris A, Weeks D, Mott R, et al. Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. Am J Hum Genet. 2005;76:950-66 pubmed
    ..In the present study, 10 positional candidate genes that map to 16p11-13 were examined for coding variants: A2BP1, ABAT, BFAR, CREBBP, EMP2, GRIN2A, MRTF-B, SSTR5, TBX6, and UBN1...
  22. Tsuji M, Aida N, Obata T, Tomiyasu M, Furuya N, Kurosawa K, et al. A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. J Inherit Metab Dis. 2010;33:85-90 pubmed publisher
    ..GABA exposure in the central nervous system (CNS) was responsible for the clinical manifestations of GABA transaminase deficiency...
  23. Inada T, Koga M, Ishiguro H, Horiuchi Y, Syu A, Yoshio T, et al. Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia. Pharmacogenet Genomics. 2008;18:317-23 pubmed publisher
    ..Redwood City, California, USA). Eight genes (ABAT, ALDH9A1, GABRA3, GABRA4, GABRB2, GABRAG3, GPHN, and SLC6A11) contained polymorphisms with gene-based corrected ..
  24. Park S, Park Y, Lee K. Crystal structure of the C-terminal domain of Bacillus subtilis GabR reveals a closed conformation by γ-aminobutyric acid binding, inducing transcriptional activation. Biochem Biophys Res Commun. 2017;487:287-291 pubmed publisher
    ..mechanism, we report the crystal structure of BsGabR-CTD in complex with pyridoxal 5'-phosphate (PLP) and GABA at 2.0 Å resolution...
  25. Ng C, Duke R, Hinton T, Johnston G. Effects of bilobalide, ginkgolide B and picrotoxinin on GABAA receptor modulation by structurally diverse positive modulators. Eur J Pharmacol. 2017;806:83-90 pubmed publisher
    ..and ginkgolide B, active constituents of Ginkgo biloba, have been shown to negatively modulate the action of GABA at α1β2γ2L GABAA receptors...
  26. Jirholt J, Asling B, Hammond P, Davidson G, Knutsson M, Walentinsson A, et al. 4-aminobutyrate aminotransferase (ABAT): genetic and pharmacological evidence for an involvement in gastro esophageal reflux disease. PLoS ONE. 2011;6:e19095 pubmed publisher
    ..a significant genetic association for one SNP located in an intron of the gene 4-aminobutyrate aminotransferase (ABAT) (P(adj) = 0.027)...
  27. Yoon C, Kim D, Jang S, Lee B, Choi H, Choi S, et al. Cysteine-321 of human brain GABA transaminase is involved in intersubunit cross-linking. Mol Cells. 2004;18:214-9 pubmed
    ..These results suggest that the Cys321 residue is essential for the catalytic function of GABA-T, and that it is involved in the formation of a disulfide link between two monomers of human brain GABA-T. ..
  28. Kumar N, Dubey A, Upadhyay A, Gautam A, Ranjan R, Srikishna S, et al. GABA accretion reduces Lsi-1 and Lsi-2 gene expressions and modulates physiological responses in Oryza sativa to provide tolerance towards arsenic. Sci Rep. 2017;7:8786 pubmed publisher
    ..accumulation of GABA was highly efficient to provide tolerance to plants against As(III), while higher level of GABA at short term was toxic...
  29. Pandit S, Lee G, Park J. Developmental changes in GABAA tonic inhibition are compromised by multiple mechanisms in preadolescent dentate gyrus granule cells. Korean J Physiol Pharmacol. 2017;21:695-702 pubmed publisher
    ..The facilitation of Itonic by SNAP-5114, a GAT-3 inhibitor, was negligible in the absence of exogenous GABA at all tested ages...
  30. Nardone S, Sams D, Zito A, Reuveni E, Elliott E. Dysregulation of Cortical Neuron DNA Methylation Profile in Autism Spectrum Disorder. Cereb Cortex. 2017;27:5739-5754 pubmed publisher
    ..58 differentially methylated regions (DMRs) that included loci associated to GABAergic system genes, particularly ABAT and GABBR1, and brain-specific MicroRNAs...
  31. Jeon S, Bahn J, Jang J, Park J, Kwon O, Cho S, et al. Human brain GABA transaminase tissue distribution and molecular expression. Eur J Biochem. 2000;267:5601-7 pubmed
    ..35 min-1, respectively. Results from inactivation kinetics suggested that human gamma-aminobutyrate transaminase is more sensitive to the vigabatrin drug than the enzyme isolated from bovine brain. ..
  32. Dobberthien B, Tessier A, Yahya A. Improved resolution of glutamate, glutamine and γ-aminobutyric acid with optimized point-resolved spectroscopy sequence timings for their simultaneous quantification at 9.4 T. NMR Biomed. 2017;: pubmed publisher
    ..4 T. Quantification was based on the proton resonances of Gln, Glu and GABA at ≈2.45, ≈2.35 and ≈2.28 ppm, respectively...
  33. Parviz M, Vogel K, Gibson K, Pearl P. Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. J Pediatr Epilepsy. 2014;3:217-227 pubmed
    ..GABA-transaminase deficiency is associated with a severe neonatal-infantile epileptic encephalopathy. ..
  34. Ramirez A, Lynes M, Shamsi F, Xue R, Tseng Y, Kahn C, et al. Integrating Extracellular Flux Measurements and Genome-Scale Modeling Reveals Differences between Brown and White Adipocytes. Cell Rep. 2017;21:3040-3048 pubmed publisher
    ..Predictions matched experimental data for the metabolite 4-aminobutyrate, the protein ABAT, and the fluxes for glucose, glutamine, and palmitate...
  35. Jeremiah S, Povey S. The biochemical genetics of human gamma-aminobutyric acid transaminase. Ann Hum Genet. 1981;45:231-6 pubmed
    1. Two methods have been devised for the detection after electrophoresis of gamma-aminobutyric acid transaminase (GABAT) isozymes. 2. GABAT isozymes can be detected in liver, brain, kidney, pancreas, heart, testis...
  36. Madjroh N, Olander E, Bundgaard C, Söderhielm P, Jensen A. Functional properties and mechanism of action of PPTQ, an allosteric agonist and low nanomolar positive allosteric modulator at GABAA receptors. Biochem Pharmacol. 2018;147:153-169 pubmed publisher
    ..Whereas PPTQ exclusively increased the potency of GABA at the α1β2γ2S receptor, it increased both GABA potency and efficacy at α4<..
  37. Hearl W, Churchich J. Interactions between 4-aminobutyrate aminotransferase and succinic semialdehyde dehydrogenase, two mitochondrial enzymes. J Biol Chem. 1984;259:11459-63 pubmed
    ....
  38. Takeuchi K. GABA, a primary metabolite controlled by the Gac/Rsm regulatory pathway, favors a planktonic over a biofilm lifestyle in Pseudomonas protegens CHA0. Mol Plant Microbe Interact. 2017;: pubmed publisher
    ..The gabT gene encoded -aminobutyrate transaminase (GABAT) and enabled the growth of the bacterium on GABA, whereas the upstream gabD gene (annotated as a gene encoding ..
  39. Rainesalo S, Saransaari P, Peltola J, Keränen T. Uptake of GABA and activity of GABA-transaminase in platelets from epileptic patients. Epilepsy Res. 2003;53:233-9 pubmed
    ..The observed peripheral alterations may indicate an impairment in the function of brain GABAergic systems. ..
  40. Nam H, Jun S. Association between active brown adipose tissue and coronary artery calcification in healthy men. Nuklearmedizin. 2017;56:184-190 pubmed publisher
    We compared various clinical factors between persons with active brown adipose tissue (ABAT) and matched controls, and investigated the relationship between the presence of ABAT and coronary artery calcification (CAC) with respect to ..
  41. Shandra O, Moshe S, Galanopoulou A. Inflammation in Epileptic Encephalopathies. Adv Protein Chem Struct Biol. 2017;108:59-84 pubmed publisher
    ..treatment options include hormonal treatment (adrenocorticotropic hormone and high-dose steroids) and the GABA aminotransferase inhibitor vigabatrin, while ketogenic diet can be given as add-on treatment in refractory IS...
  42. Louis E, Hernandez N, Dyke J, Ma R, Dydak U. In Vivo Dentate Nucleus Gamma-aminobutyric Acid Concentration in Essential Tremor vs. Controls. Cerebellum. 2017;: pubmed publisher
    ..PCs are a major storehouse of central nervous system gamma-aminobutyric acid (GABA), releasing GABA at the level of the dentate nucleus...
  43. Wang R, Lei T, Fu F, Li R, Jing X, Yang X, et al. [Application of chromosome microarray analysis in 489 children with developmental delay/intellectual disability]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:528-533 pubmed publisher
    ..Forty-seven cases had de novo pathogenic CNVs. ABAT, PMM2, FTSJ1, DYNC1H1 and SETBP1 were considered as candidate genes for DD/ID...