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Record Information
Version4.0
StatusDetected and Quantified
Creation Date2005-11-16 15:48:42 UTC
Update Date2018-04-16 16:59:18 UTC
HMDB IDHMDB0000112
Secondary Accession Numbers
  • HMDB00112
Metabolite Identification
Common Namegamma-Aminobutyric acid
Descriptiongamma-Aminobutyric acid (GABA) is an inhibitory neurotransmitter found in the nervous systems of widely divergent species, including humans. It is the chief inhibitory neurotransmitter in the vertebrate central nervous system. In vertebrates, GABA acts at inhibitory synapses in the brain. It acts by binding to specific transmembrane receptors in the plasma membrane of both pre- and postsynaptic neurons. This binding causes the opening of ion channels to allow either the flow of negatively-charged chloride ions into the cell or positively-charged potassium ions out of the cell. This will typically result in a negative change in the transmembrane potential, usually causing hyperpolarization. Three general classes of GABA receptor are known (PMID: 10561820 ). These include GABA-A and GABA-C ionotropic receptors, which are ion channels themselves, and GABA-B metabotropic receptors, which are G protein-coupled receptors that open ion channels via intermediaries known as G proteins (PMID: 10561820 ). Activation of the GABA-B receptor by GABA causes neuronal membrane hyperpolarization and a resultant inhibition of neurotransmitter release. In addition to binding sites for GABA, the GABA-A receptor has binding sites for benzodiazepines, barbiturates, and neurosteroids. GABA-A receptors are coupled to chloride ion channels. Therefore, activation of the GABA-A receptor induces increased inward chloride ion flux, resulting in membrane hyperpolarization and neuronal inhibition (PMID: 10561820 ). After release into the synapse, free GABA that does not bind to either the GABA-A or GABA-B receptor complexes can be taken up by neurons and glial cells. Four different GABA membrane transporter proteins (GAT-1, GAT-2, GAT-3, and BGT-1), which differ in their distribution in the CNS, are believed to mediate the uptake of synaptic GABA into neurons and glial cells. The GABA-A receptor subtype regulates neuronal excitability and rapid changes in fear arousal, such as anxiety, panic, and the acute stress response (PMID: 10561820 ). Drugs that stimulate GABA-A receptors, such as the benzodiazepines and barbiturates, have anxiolytic and anti-seizure effects via GABA-A-mediated reduction of neuronal excitability, which effectively raises the seizure threshold. GABA-A antagonists produce convulsions in animals and there is decreased GABA-A receptor binding in a positron emission tomography (PET) study of patients with panic disorder. Neurons that produce GABA as their output are called GABAergic neurons and have chiefly inhibitory action at receptors in the vertebrate. Medium spiny neurons (MSNs) are a typical example of inhibitory CNS GABAergic cells. GABA has been shown to have excitatory roles in the vertebrate, most notably in the developing cortex. Organisms synthesize GABA from glutamate using the enzyme L-glutamic acid decarboxylase and pyridoxal phosphate as a cofactor (PMID: 12467378 ). It is worth noting that this involves converting the principal excitatory neurotransmitter (glutamate) into the principal inhibitory one (GABA). Drugs that act as agonists of GABA receptors (known as GABA analogs or GABAergic drugs), or increase the available amount of GABA typically have relaxing, anti-anxiety, and anti-convulsive effects. GABA is found to be deficient in cerebrospinal fluid and the brain in many studies of experimental and human epilepsy. Benzodiazepines (such as Valium) are useful in status epilepticus because they act on GABA receptors. GABA increases in the brain after administration of many seizure medications. Hence, GABA is clearly an antiepileptic nutrient. Inhibitors of GAM metabolism can also produce convulsions. Spasticity and involuntary movement syndromes, such as Parkinson's, Friedreich's ataxia, tardive dyskinesia, and Huntington's chorea, are all marked by low GABA when amino acid levels are studied. Trials of 2 to 3 g of GABA given orally have been effective in various epilepsy and spasticity syndromes. Agents that elevate GABA are also useful in lowering hypertension. Three grams orally have been effective in controlling blood pressure. GABA is decreased in various encephalopathies. GABA can reduce appetite and is decreased in hypoglycemics. GABA reduces blood sugar in diabetics. Chronic brain syndromes can also be marked by deficiencies of GABA. Vitamin B6, manganese, taurine, and lysine can increase both GABA synthesis and effects, while aspartic acid and glutamic acid probably inhibit GABA effects. Low plasma GABA has been reported in some depressed patients and may be a useful trait marker for mood disorders. GABA has an important role in embryonic development, especially facial development, as substantiated by the association of a cleft palate in transgenic mice deficient in GAD67 (glutamate decarboxylase). A recent Japanese population study reported linkage in patients with a nonsyndromic cleft lip with or without a cleft palate and specific GAD67 haplotypes (PMID: 23842532 ). Unusually high levels of GABA (especially in the brain) can be toxic and GABA can function as both a neurotoxin and a metabotoxin. A neurotoxin is a compound that damages the brain and/or nerve tissue. A metabotoxin is an endogenously produced metabolite that causes adverse health effects at chronically high levels. Chronically high levels of GABA are associated with at least five inborn errors of metabolism, including D-2-hydroxyglutaric aciduria, 4-hydroxybutyric aciduria/succinic semialdehyde dehydrogenase deficiency, GABA-transaminase deficiency, homocarnosinosis, and hyper beta-alaninemia. Nearly all of these conditions are associated with seizures, hypotonia, intellectual deficits, macrocephaly, encephalopathy, and other serious neurological or neuromuscular problems. Increased levels of GABA seem to alter the function of the GABA-B receptor, which may play a role in the tonic-clonic seizures that are often seen in patients with the above disorders.
Structure
Thumb
Synonyms
ValueSource
4-Aminobutanoic acidChEBI
4-Aminobutyric acidChEBI
4AbuChEBI
GABAChEBI
GAMMA-amino-BUTANOIC ACIDChEBI
gamma-amino-N-Butyric acidChEBI
gamma-Aminobutanoic acidChEBI
gamma-AminobuttersaeureChEBI
Omega-aminobutyric acidChEBI
Piperidic acidChEBI
Piperidinic acidChEBI
4-AminobutanoateGenerator
g-AminobutyrateGenerator
g-Aminobutyric acidGenerator
gamma-AminobutyrateGenerator
γ-aminobutyrateGenerator
γ-aminobutyric acidGenerator
4-AminobutyrateGenerator
g-amino-BUTANOateGenerator
g-amino-BUTANOic acidGenerator
gamma-amino-BUTANOateGenerator
γ-amino-butanoateGenerator
γ-amino-butanoic acidGenerator
g-amino-N-ButyrateGenerator
g-amino-N-Butyric acidGenerator
gamma-amino-N-ButyrateGenerator
γ-amino-N-butyrateGenerator
γ-amino-N-butyric acidGenerator
g-AminobutanoateGenerator
g-Aminobutanoic acidGenerator
gamma-AminobutanoateGenerator
γ-aminobutanoateGenerator
γ-aminobutanoic acidGenerator
g-AminobuttersaeureGenerator
γ-aminobuttersaeureGenerator
Omega-aminobutyrateGenerator
PiperidateGenerator
PiperidinateGenerator
3-CarboxypropylamineHMDB
AminalonHMDB
GaballonHMDB
GamarexHMDB
gamma AminobutyrateHMDB
gamma Aminobutyric acidHMDB
GammalonHMDB
GammaloneHMDB
GammarHMDB
GammasolHMDB
MielogenHMDB
MielomadeHMDB
W-AminobutyrateHMDB
W-Aminobutyric acidHMDB
gamma-Aminobutyric acid, calcium salt (2:1)MeSH
gamma-Aminobutyric acid, hydrochlorideMeSH
gamma-Aminobutyric acid, zinc salt (2:1)MeSH
4 Aminobutanoic acidMeSH
4 Aminobutyric acidMeSH
Lithium gabaMeSH
gamma Aminobutyric acid, monolithium saltMeSH
gamma Aminobutyric acid, monosodium saltMeSH
gamma-Aminobutyric acid, monolithium saltMeSH
gamma-Aminobutyric acid, monosodium saltMeSH
Acid, hydrochloride gamma-aminobutyricMeSH
AminaloneMeSH
GABA, lithiumMeSH
Hydrochloride gamma-aminobutyric acidMeSH
gamma Aminobutyric acid, hydrochlorideMeSH
Chemical FormulaC4H9NO2
Average Molecular Weight103.1198
Monoisotopic Molecular Weight103.063328537
IUPAC NameNot Available
Traditional NameNot Available
CAS Registry Number56-12-2
SMILES
NCCCC(O)=O
InChI Identifier
InChI=1S/C4H9NO2/c5-3-1-2-4(6)7/h1-3,5H2,(H,6,7)
InChI KeyBTCSSZJGUNDROE-UHFFFAOYSA-N
Chemical Taxonomy
DescriptionThis compound belongs to the class of organic compounds known as gamma amino acids and derivatives. These are amino acids having a (-NH2) group attached to the gamma carbon atom.
KingdomOrganic compounds
Super ClassOrganic acids and derivatives
ClassCarboxylic acids and derivatives
Sub ClassAmino acids, peptides, and analogues
Direct ParentGamma amino acids and derivatives
Alternative Parents
Substituents
  • Gamma amino acid or derivatives
  • Amino fatty acid
  • Straight chain fatty acid
  • Fatty acid
  • Fatty acyl
  • Amino acid
  • Monocarboxylic acid or derivatives
  • Carboxylic acid
  • Organic oxide
  • Organopnictogen compound
  • Primary amine
  • Organooxygen compound
  • Organonitrogen compound
  • Primary aliphatic amine
  • Organic oxygen compound
  • Carbonyl group
  • Organic nitrogen compound
  • Amine
  • Hydrocarbon derivative
  • Aliphatic acyclic compound
Molecular FrameworkAliphatic acyclic compounds
External Descriptors
Ontology
Physiological effect

Health effect:

Disposition

Route of exposure:

Source:

Biological location:

Process

Naturally occurring process:

Role

Indirect biological role:

Biological role:

Industrial application:

Physical Properties
StateSolid
Experimental Properties
PropertyValueReference
Melting Point203 °CNot Available
Boiling PointNot AvailableNot Available
Water Solubility1300 mg/mLNot Available
LogP-3.17HANSCH,C ET AL. (1995)
Predicted Properties
PropertyValueSource
Water Solubility365 g/LALOGPS
Spectra
Spectra
Spectrum TypeDescriptionSplash Key
GC-MSGC-MS Spectrum - GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (3 TMS)splash10-00dj-1900000000-f831f79dfcaeffa8b177View in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (3 TMS)splash10-00di-1900000000-2de9d92a2cfc7bc655f4View in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (3 TMS)splash10-00di-1900000000-73bbf2ee0803f058dbedView in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (3 TMS)splash10-00di-1901000000-85d4bd98af8534428b5aView in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (3 TMS)splash10-00di-0900000000-6be23968e972a414be51View in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (Non-derivatized)splash10-00di-1900000000-9a224763afd8ca892addView in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (3 TMS)splash10-00di-9800000000-d8906d09ca1872a6391cView in MoNA
GC-MSGC-MS Spectrum - GC-MS (2 TMS)splash10-0udi-1900000000-54db7e21790401045519View in MoNA
GC-MSGC-MS Spectrum - GC-MS (3 TMS)splash10-00di-1901000000-b047af158215c2b5b8e8View in MoNA
GC-MSGC-MS Spectrum - EI-B (Non-derivatized)splash10-001i-9000000000-21ea76dfb0da62031f1dView in MoNA
GC-MSGC-MS Spectrum - EI-B (Non-derivatized)splash10-00di-0901000000-5d60b0a446fd8122f613View in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Non-derivatized)splash10-00dj-1900000000-f831f79dfcaeffa8b177View in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Non-derivatized)splash10-00di-1900000000-2de9d92a2cfc7bc655f4View in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Non-derivatized)splash10-00di-1900000000-73bbf2ee0803f058dbedView in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Non-derivatized)splash10-00di-1901000000-85d4bd98af8534428b5aView in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Non-derivatized)splash10-00di-0900000000-6be23968e972a414be51View in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Non-derivatized)splash10-00di-1900000000-9a224763afd8ca892addView in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Non-derivatized)splash10-00di-9800000000-d8906d09ca1872a6391cView in MoNA
GC-MSGC-MS Spectrum - GC-MS (Non-derivatized)splash10-0udi-1900000000-54db7e21790401045519View in MoNA
GC-MSGC-MS Spectrum - GC-MS (Non-derivatized)splash10-00di-1901000000-b047af158215c2b5b8e8View in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Non-derivatized)splash10-00dj-1900000000-1219470a0be188da64e6View in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Non-derivatized)splash10-0udi-0900000000-f7117dfaf9d856c95919View in MoNA
GC-MSGC-MS Spectrum - GC-EI-TOF (Non-derivatized)splash10-0006-1900000000-e35585a985d8128d044eView in MoNA
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (Non-derivatized) - 70eV, Positivesplash10-001i-9000000000-d5f55a414ff1e8c65d9dView in MoNA
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (1 TMS) - 70eV, Positivesplash10-0fk9-9700000000-4b2809309587240dd479View in MoNA
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 10V, Positive (Annotated)splash10-0uxr-8900000000-ce0d8f44422836cd9965View in MoNA
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 25V, Positive (Annotated)splash10-0005-9000000000-8ce5afb97d7c08821da3View in MoNA
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 40V, Positive (Annotated)splash10-0005-9100000000-32c433b2c916697690f8View in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Positivesplash10-0udi-0900000000-5831aaabdf53f3132ae5View in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Positivesplash10-0a4i-9000000000-9babfd4a6937ecba7318View in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Positivesplash10-0a4i-9000000000-e1c0c1485d846e9b123bView in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Positivesplash10-0udi-0900000000-647d55ecf98850e7a875View in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Positivesplash10-0udi-0900000000-7c107641a38922c88fcaView in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Positivesplash10-000i-9000000000-86718b349efad6334e3aView in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Positivesplash10-000i-9000000000-a1e84e55e4b6c6628d5dView in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Positivesplash10-0006-0009000000-29c22bf0ed844d09c0afView in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 10V, Negativesplash10-0udi-0900000000-1d00adad47e42c60c340View in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 20V, Negativesplash10-0udi-1900000000-47b195fb74720cc99464View in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 30V, Negativesplash10-001i-9000000000-a14a52dc59bf9988bb44View in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 10V, Positivesplash10-0udi-5900000000-20c55b2809389d5ad83bView in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 20V, Positivesplash10-000i-9000000000-eca4c5aefca98751a11eView in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 30V, Positivesplash10-014j-9000000000-f0783316e09291749409View in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 40V, Positivesplash10-0005-9000000000-81837eb9c0b926cb0e81View in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 50V, Positivesplash10-0005-9000000000-8b48126992d7fa242636View in MoNA
LC-MS/MSLC-MS/MS Spectrum - LC-ESI-QTOF (UPLC Q-Tof Premier, Waters) , Positivesplash10-000i-9000000000-7d4636efbc4e5d75872eView in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Positivesplash10-000i-9100000000-655f9d93a35bfa537583View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Positivesplash10-00ku-9000000000-4a334d5e272576f62403View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Positivesplash10-0006-9000000000-4a13b03446b3370ccd43View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Positivesplash10-000i-9100000000-655f9d93a35bfa537583View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Positivesplash10-00ku-9000000000-4a334d5e272576f62403View in MoNA
MSMass Spectrum (Electron Ionization)splash10-001i-9000000000-dbf4f9e19a35f953a189View in MoNA
1D NMR1H NMR SpectrumNot AvailableView in JSpectraViewer
1D NMR13C NMR SpectrumNot AvailableView in JSpectraViewer
1D NMR1H NMR SpectrumNot AvailableView in JSpectraViewer
1D NMR13C NMR SpectrumNot AvailableView in JSpectraViewer
1D NMR1H NMR SpectrumNot AvailableView in JSpectraViewer
2D NMR[1H,13C] 2D NMR SpectrumNot AvailableView in JSpectraViewer
Biological Properties
Cellular Locations
  • Extracellular
  • Mitochondria
  • Lysosome
Biospecimen Locations
  • Blood
  • Cerebrospinal Fluid (CSF)
  • Feces
  • Saliva
  • Urine
Tissue Location
  • Adrenal Cortex
  • Brain
  • Epidermis
  • Fibroblasts
  • Hippocampus
  • Kidney
  • Muscle
  • Nerve Cells
  • Neuron
  • Spleen
  • Testes
Pathways
NameSMPDB/PathwhizKEGG
2-Hydroxyglutric Aciduria (D And L Form)ThumbThumb?image type=greyscaleThumb?image type=simpleNot Available
4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase DeficiencyThumbThumb?image type=greyscaleThumb?image type=simpleNot Available
Glutamate MetabolismThumbThumb?image type=greyscaleThumb?image type=simpleMap00250
HomocarnosinosisThumbThumb?image type=greyscaleThumb?image type=simpleNot Available
Hyperinsulinism-Hyperammonemia SyndromeThumbThumb?image type=greyscaleThumb?image type=simpleNot Available
Normal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified0.110 +/- 0.023 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified0.120-0.500 uMChildren (1 - 13 years old)BothNormal
    • Physician's Guide...
details
Cerebrospinal Fluid (CSF)Detected and Quantified0.24 +/- 0.096 uMAdult (>18 years old)BothNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified0.0200-0.100 uMNewborn (0-30 days old)Not SpecifiedNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified0.32 (0.2 -0.45) uMAdult (>18 years old)BothNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified0.23 +/- 0.075 uMAdult (>18 years old)BothNormal
    • Geigy Scientific ...
details
Cerebrospinal Fluid (CSF)Detected and Quantified0.233 +/- 0.075 uMNot SpecifiedNot SpecifiedNormal
    • Geigy Scientific ...
details
Cerebrospinal Fluid (CSF)Detected and Quantified0.093 (0.083-0.10) uMAdult (>18 years old)BothNormal details
FecesDetected but not Quantified Children (6 - 18 years old)Not SpecifiedNormal details
FecesDetected but not Quantified Not SpecifiedBoth
Normal
details
FecesDetected but not Quantified Not SpecifiedNot Specified
Normal
details
FecesDetected and Quantified4363.856 (2909.238-5818.475) nmol/g wet fecesInfant (0-1 year old)Not Specified
Normal
details
FecesDetected and Quantified6658.922 (2812.263-10505.580) nmol/g wet fecesInfant (0-1 year old)Not Specified
Normal
details
FecesDetected and Quantified4202.232 (2359.715-6044.749) nmol/g wet fecesInfant (0-1 year old)Not Specified
Normal
details
FecesDetected but not Quantified Adult (>18 years old)Both
Normal
details
FecesDetected but not Quantified Adult (>18 years old)FemaleNormal details
FecesDetected and Quantified576.999 +/- 520.754 nmol/g wet fecesNot SpecifiedNot Specified
Normal
details
FecesDetected but not Quantified Not SpecifiedNot Specified
Normal
details
FecesDetected but not Quantified Adult (>18 years old)Both
Normal
details
FecesDetected but not Quantified Adult (>18 years old)Both
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)BothNormal details
SalivaDetected but not Quantified Adult (>18 years old)BothNormal details
SalivaDetected and Quantified>10 uMAdult (>18 years old)BothNormal details
SalivaDetected and Quantified1.23 +/- 0.57 uMAdult (>18 years old)FemaleNormal details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
SalivaDetected but not Quantified Adult (>18 years old)Male
Normal
details
UrineDetected and Quantified0.09 +/- 0.10 umol/mmol creatinineInfant (0-1 year old)BothNormal details
UrineDetected and Quantified<0.461 umol/mmol creatinineAdult (>18 years old)BothNormal
    details
    UrineDetected and Quantified8.037 +/- 2.502 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
    Normal
      • Mordechai, Hien, ...
    details
    UrineDetected and Quantified0.17 +/- 0.025 umol/mmol creatinineAdult (>18 years old)FemaleNormal details
    UrineDetected and Quantified0.25 +/- 0.20 umol/mmol creatinineAdult (>18 years old)Not SpecifiedNormal details
    UrineDetected and Quantified1.3 (0.0-2.8) umol/mmol creatinineNewborn (0-30 days old)BothNormal
      • Geigy Scientific ...
      • West Cadwell, N.J...
      • Basel, Switzerlan...
    details
    UrineDetected and Quantified103.89 (72.43 – 169.51) umol/mmol creatinineAdult (>18 years old)BothNormal
      • Lorena Ivona ŞTEF...
    details
    UrineDetected and Quantified2.9 (2.7-3.3) umol/mmol creatinineAdult (>18 years old)BothNormal details
    Abnormal Concentrations
    BiospecimenStatusValueAgeSexConditionReferenceDetails
    BloodDetected and Quantified0.46 +/- 0.11 uMAdult (>18 years old)BothHepatic encephalopathy details
    BloodDetected and Quantified1.0 (0.0-2.0) uMAdult (>18 years old)BothGaba-transaminase deficiency
      • MetaGene: Metabol...
    details
    BloodDetected and Quantified1.45 (0.00-2.9) uMChildren (1-13 years old)BothGABA transaminase deficiency
      • MetaGene: Metabol...
    details
    BloodDetected and Quantified1.84 +/- 0.215 uMElderly (>65 years old)BothAlzheimer's disease details
    Cerebrospinal Fluid (CSF)Detected and Quantified0.13 +/- 0.043 uMAdult (>18 years old)BothSpinocerebellar degeneration details
    Cerebrospinal Fluid (CSF)Detected and Quantified0.011 uMNewborn (0-30 days old)FemaleHyperekplexia details
    Cerebrospinal Fluid (CSF)Detected and Quantified1.5 +/- 1.1 uMAdult (>18 years old)Not SpecifiedEpilepsy details
    Cerebrospinal Fluid (CSF)Detected and Quantified0.1 (0.063 - 0.179) uMChildren (1-13 years old)Not SpecifiedFebrile seizure details
    Cerebrospinal Fluid (CSF)Detected and Quantified0.52 - 0.57 uMChildren (1-13 years old)Not SpecifiedEpilepsy details
    Cerebrospinal Fluid (CSF)Detected and Quantified0.11 (0.067 - 0.176) uMChildren (1-13 years old)Not SpecifiedEpilepsy details
    Cerebrospinal Fluid (CSF)Detected and Quantified0.05 (0.00-0.10) uMAdult (>18 years old)BothGaba-transaminase deficiency
      • MetaGene: Metabol...
    details
    Cerebrospinal Fluid (CSF)Detected and Quantified2.4 (0.00-4.8) uMChildren (1-13 years old)BothGABA transaminase deficiency
      • MetaGene: Metabol...
    details
    Cerebrospinal Fluid (CSF)Detected and Quantified0.1 (0.061 - 0.171) uMChildren (1-13 years old)Both
    Meningitis
    details
    Cerebrospinal Fluid (CSF)Detected and Quantified0.016 uMInfant (0-1 year old)Not SpecifiedTypical pyridoxine-dependent seizures details
    Cerebrospinal Fluid (CSF)Detected and Quantified4.0 +/- 4.2 uMAdult (>18 years old)BothEpilepsy details
    Cerebrospinal Fluid (CSF)Detected and Quantified0.0002 +/- 0.000013 uMAdult (>18 years old)BothTuberculous meningitis details
    Cerebrospinal Fluid (CSF)Detected and Quantified0.00013 +/- 0.00002 uMAdult (>18 years old)Both
    Meningitis
    details
    FecesDetected but not Quantified Children (6 - 18 years old)Not SpecifiedCrohns disease details
    FecesDetected but not Quantified Children (6 - 18 years old)Not SpecifiedUlcerative colitis details
    FecesDetected but not Quantified Children (6 - 18 years old)Not SpecifiedUnclassified IBD details
    FecesDetected but not Quantified Not SpecifiedNot Specified
    Cryptosporidium infection
    details
    FecesDetected but not Quantified Adult (>18 years old)Both
    Colorectal cancer
    details
    FecesDetected but not Quantified Adult (>18 years old)Both
    Colorectal cancer
    details
    FecesDetected but not Quantified Adult (>18 years old)Both
    Irritable bowel syndrome
    details
    FecesDetected but not Quantified Adult (>18 years old)BothColorectal Cancer details
    SalivaDetected but not Quantified Adult (>18 years old)BothOral cancer details
    SalivaDetected but not Quantified Adult (>18 years old)FemaleBreast cancer details
    SalivaDetected but not Quantified Adult (>18 years old)Not SpecifiedPancreatic cancer details
    SalivaDetected but not Quantified Adult (>18 years old)Not SpecifiedPeriodontal diseases details
    SalivaDetected and Quantified1.08 +/- 0.34 uMAdult (>18 years old)MaleAlzheimer's disease details
    SalivaDetected and Quantified1.78 +/- 0.50 uMAdult (>18 years old)MaleFrontotemporal lobe dementia details
    SalivaDetected but not Quantified Adult (>18 years old)BothOral squamous cell carcinoma (OSCC) details
    SalivaDetected but not Quantified Adult (>18 years old)BothOral leukoplakia (OLK) details
    SalivaDetected and Quantified5.46 +/- 5.62 uMAdult (>18 years old)BothLewy body disease details
    UrineDetected and Quantified24.545 +/- 17.404 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
    Eosinophilic esophagitis
      • Mordechai, Hien, ...
    details
    UrineDetected and Quantified0.75 (0.00-1.50) umol/mmol creatinineAdult (>18 years old)BothHyper beta-alaninemia
      • MetaGene: Metabol...
    details
    UrineDetected and Quantified3.0 (1.5-4.5) umol/mmol creatinineChildren (1-13 years old)BothHyper beta-alaninemia
      • MetaGene: Metabol...
    details
    UrineDetected and Quantified118.51 (63.24 – 247.72) umol/mmol creatinineAdult (>18 years old)BothType 1 diabetes Mellitus
      • Lorena Ivona ŞTEF...
    details
    Associated Disorders and Diseases
    Disease References
    Alzheimer's disease
    1. Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed:17031479 ]
    Febrile seizures
    1. Rating D, Siemes H, Loscher W: Low CSF GABA concentration in children with febrile convulsions, untreated epilepsy, and meningitis. J Neurol. 1983;230(4):217-25. [PubMed:6198481 ]
    Epilepsy
    1. Spanaki MV, Siegel H, Kopylev L, Fazilat S, Dean A, Liow K, Ben-Menachem E, Gaillard WD, Theodore WH: The effect of vigabatrin (gamma-vinyl GABA) on cerebral blood flow and metabolism. Neurology. 1999 Oct 22;53(7):1518-22. [PubMed:10534261 ]
    2. Rating D, Siemes H, Loscher W: Low CSF GABA concentration in children with febrile convulsions, untreated epilepsy, and meningitis. J Neurol. 1983;230(4):217-25. [PubMed:6198481 ]
    Hepatic encephalopathy
    1. Campollo O, MacGillivray BB, McIntyre N: [Association of plasma ammonia and GABA levels and the degree of hepatic encephalopathy]. Rev Invest Clin. 1992 Oct-Dec;44(4):483-90. [PubMed:1485027 ]
    Hyper beta-alaninemia
    1. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
    Meningitis
    1. Qureshi GA, Baig SM, Bednar I, Halawa A, Parvez SH: The neurochemical markers in cerebrospinal fluid to differentiate between aseptic and tuberculous meningitis. Neurochem Int. 1998 Feb;32(2):197-203. [PubMed:9542731 ]
    2. Rating D, Siemes H, Loscher W: Low CSF GABA concentration in children with febrile convulsions, untreated epilepsy, and meningitis. J Neurol. 1983;230(4):217-25. [PubMed:6198481 ]
    Tuberculous meningitis
    1. Qureshi GA, Baig SM, Bednar I, Halawa A, Parvez SH: The neurochemical markers in cerebrospinal fluid to differentiate between aseptic and tuberculous meningitis. Neurochem Int. 1998 Feb;32(2):197-203. [PubMed:9542731 ]
    Gaba-transaminase deficiency
    1. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
    Hyperekplexia
    1. Dubowitz LM, Bouza H, Hird MF, Jaeken J: Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease. Lancet. 1992 Jul 11;340(8811):80-1. [PubMed:1352015 ]
    Associated OMIM IDs
    DrugBank IDDB02530
    Phenol Explorer Compound IDNot Available
    FoodDB IDFDB008937
    KNApSAcK IDC00001337
    Chemspider ID116
    KEGG Compound IDC00334
    BioCyc ID4-AMINO-BUTYRATE
    BiGG ID34652
    Wikipedia LinkGamma-Aminobutyric_acid
    METLIN IDNot Available
    PubChem Compound119
    PDB IDABU
    ChEBI ID16865
    References
    Synthesis ReferenceMinoshima, Ryoichi. Preparation of gamma-aminobutyric acid with unripened beans. PCT Int. Appl. (2007), 25pp.
    Material Safety Data Sheet (MSDS)Not Available
    General References
    1. Silwood CJ, Lynch E, Claxson AW, Grootveld MC: 1H and (13)C NMR spectroscopic analysis of human saliva. J Dent Res. 2002 Jun;81(6):422-7. [PubMed:12097436 ]
    2. Zarnowska ED, Pearce RA, Saad AA, Perouansky M: The gamma-subunit governs the susceptibility of recombinant gamma-aminobutyric acid type A receptors to block by the nonimmobilizer 1,2-dichlorohexafluorocyclobutane (F6, 2N). Anesth Analg. 2005 Aug;101(2):401-6, table of contents. [PubMed:16037152 ]
    3. Levy LM, Levy-Reis I, Fujii M, Dalakas MC: Brain gamma-aminobutyric acid changes in stiff-person syndrome. Arch Neurol. 2005 Jun;62(6):970-4. [PubMed:15956168 ]
    4. Hasler G, Neumeister A, van der Veen JW, Tumonis T, Bain EE, Shen J, Drevets WC, Charney DS: Normal prefrontal gamma-aminobutyric acid levels in remitted depressed subjects determined by proton magnetic resonance spectroscopy. Biol Psychiatry. 2005 Dec 15;58(12):969-73. Epub 2005 Jul 25. [PubMed:16043137 ]
    5. Denda M, Inoue K, Inomata S, Denda S: gamma-Aminobutyric acid (A) receptor agonists accelerate cutaneous barrier recovery and prevent epidermal hyperplasia induced by barrier disruption. J Invest Dermatol. 2002 Nov;119(5):1041-7. [PubMed:12445190 ]
    6. Wiens SC, Trudeau VL: Thyroid hormone and gamma-aminobutyric acid (GABA) interactions in neuroendocrine systems. Comp Biochem Physiol A Mol Integr Physiol. 2006 Jul;144(3):332-44. Epub 2006 Mar 9. [PubMed:16527506 ]
    7. Choi C, Coupland NJ, Hanstock CC, Ogilvie CJ, Higgins AC, Gheorghiu D, Allen PS: Brain gamma-aminobutyric acid measurement by proton double-quantum filtering with selective J rewinding. Magn Reson Med. 2005 Aug;54(2):272-9. [PubMed:16032672 ]
    8. Metzeler K, Agoston A, Gratzl M: An Intrinsic gamma-aminobutyric acid (GABA)ergic system in the adrenal cortex: findings from human and rat adrenal glands and the NCI-H295R cell line. Endocrinology. 2004 May;145(5):2402-11. Epub 2004 Jan 15. [PubMed:14726441 ]
    9. Naini AB, Vontzalidou E, Cote LJ: Isocratic HPLC assay with electrochemical detection of free gamma-aminobutyric acid in cerebrospinal fluid. Clin Chem. 1993 Feb;39(2):247-50. [PubMed:8432013 ]
    10. Levy LM, Henkin RI: Brain gamma-aminobutyric acid levels are decreased in patients with phantageusia and phantosmia demonstrated by magnetic resonance spectroscopy. J Comput Assist Tomogr. 2004 Nov-Dec;28(6):721-7. [PubMed:15538143 ]
    11. Rating D, Siemes H, Loscher W: Low CSF GABA concentration in children with febrile convulsions, untreated epilepsy, and meningitis. J Neurol. 1983;230(4):217-25. [PubMed:6198481 ]
    12. Spanaki MV, Siegel H, Kopylev L, Fazilat S, Dean A, Liow K, Ben-Menachem E, Gaillard WD, Theodore WH: The effect of vigabatrin (gamma-vinyl GABA) on cerebral blood flow and metabolism. Neurology. 1999 Oct 22;53(7):1518-22. [PubMed:10534261 ]
    13. Campollo O, MacGillivray BB, McIntyre N: [Association of plasma ammonia and GABA levels and the degree of hepatic encephalopathy]. Rev Invest Clin. 1992 Oct-Dec;44(4):483-90. [PubMed:1485027 ]
    14. Nicholson-Guthrie CS, Guthrie GD, Sutton GP, Baenziger JC: Urine GABA levels in ovarian cancer patients: elevated GABA in malignancy. Cancer Lett. 2001 Jan 10;162(1):27-30. [PubMed:11121859 ]
    15. Nisijima K, Ishiguro T: Cerebrospinal fluid levels of monoamine metabolites and gamma-aminobutyric acid in neuroleptic malignant syndrome. J Psychiatr Res. 1995 May-Jun;29(3):233-44. [PubMed:7473299 ]
    16. Chebib M, Johnston GA: The 'ABC' of GABA receptors: a brief review. Clin Exp Pharmacol Physiol. 1999 Nov;26(11):937-40. [PubMed:10561820 ]
    17. Petroff OA: GABA and glutamate in the human brain. Neuroscientist. 2002 Dec;8(6):562-73. doi: 10.1177/1073858402238515. [PubMed:12467378 ]
    18. Pearl PL, Hartka TR, Cabalza JL, Taylor J, Gibson MK: Inherited disorders of GABA metabolism. Future Neurol. 2006 Sep;1(5):631-636. doi: 10.2217/14796708.1.5.631. [PubMed:23842532 ]

    Only showing the first 10 proteins. There are 38 proteins in total.

    Enzymes

    General function:
    Involved in 4-aminobutyrate transaminase activity
    Specific function:
    Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine.
    Gene Name:
    ABAT
    Uniprot ID:
    P80404
    Molecular weight:
    56438.405
    Reactions
    gamma-Aminobutyric acid + Oxoglutaric acid → Succinic acid semialdehyde + L-Glutamic aciddetails
    General function:
    Involved in oxidoreductase activity
    Specific function:
    Converts gamma-trimethylaminobutyraldehyde into gamma-butyrobetaine. Catalyzes the irreversible oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction.
    Gene Name:
    ALDH9A1
    Uniprot ID:
    P49189
    Molecular weight:
    56291.485
    Reactions
    4-Aminobutyraldehyde + NAD + Water → gamma-Aminobutyric acid + NADHdetails
    4-Aminobutyraldehyde + NADP + Water → gamma-Aminobutyric acid + NADPH + Hydrogen Iondetails
    4-Aminobutyraldehyde + NAD + Water → gamma-Aminobutyric acid + NADH + Hydrogen Iondetails
    General function:
    Involved in oxidoreductase activity
    Specific function:
    Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism.
    Gene Name:
    ALDH7A1
    Uniprot ID:
    P49419
    Molecular weight:
    58486.74
    Reactions
    4-Aminobutyraldehyde + NADP + Water → gamma-Aminobutyric acid + NADPH + Hydrogen Iondetails
    4-Aminobutyraldehyde + NAD + Water → gamma-Aminobutyric acid + NADH + Hydrogen Iondetails
    General function:
    Involved in oxidoreductase activity
    Specific function:
    Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Seems to be the key enzyme in the formation of an RA gradient along the dorso-ventral axis during the early eye development and also in the development of the olfactory system (By similarity).
    Gene Name:
    ALDH1A3
    Uniprot ID:
    P47895
    Molecular weight:
    56107.995
    General function:
    Involved in oxidoreductase activity
    Specific function:
    Not Available
    Gene Name:
    ALDH2
    Uniprot ID:
    P05091
    Molecular weight:
    56380.93
    Reactions
    4-Aminobutyraldehyde + NADP + Water → gamma-Aminobutyric acid + NADPH + Hydrogen Iondetails
    4-Aminobutyraldehyde + NAD + Water → gamma-Aminobutyric acid + NADH + Hydrogen Iondetails
    General function:
    Involved in oxidoreductase activity
    Specific function:
    Catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length. Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid.
    Gene Name:
    ALDH3A2
    Uniprot ID:
    P51648
    Molecular weight:
    54847.36
    Reactions
    4-Aminobutyraldehyde + NADP + Water → gamma-Aminobutyric acid + NADPH + Hydrogen Iondetails
    4-Aminobutyraldehyde + NAD + Water → gamma-Aminobutyric acid + NADH + Hydrogen Iondetails
    General function:
    Involved in oxidoreductase activity
    Specific function:
    ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation.
    Gene Name:
    ALDH1B1
    Uniprot ID:
    P30837
    Molecular weight:
    57248.96
    Reactions
    4-Aminobutyraldehyde + NADP + Water → gamma-Aminobutyric acid + NADPH + Hydrogen Iondetails
    4-Aminobutyraldehyde + NAD + Water → gamma-Aminobutyric acid + NADH + Hydrogen Iondetails
    General function:
    Amino acid transport and metabolism
    Specific function:
    Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis.
    Gene Name:
    GATM
    Uniprot ID:
    P50440
    Molecular weight:
    48455.01
    Reactions
    L-Arginine + gamma-Aminobutyric acid → Ornithine + 4-Guanidinobutanoic aciddetails
    References
    1. Overington JP, Al-Lazikani B, Hopkins AL: How many drug targets are there? Nat Rev Drug Discov. 2006 Dec;5(12):993-6. [PubMed:17139284 ]
    2. Imming P, Sinning C, Meyer A: Drugs, their targets and the nature and number of drug targets. Nat Rev Drug Discov. 2006 Oct;5(10):821-34. [PubMed:17016423 ]
    General function:
    Involved in glutamate-ammonia ligase activity
    Specific function:
    This enzyme has 2 functions: it catalyzes the production of glutamine and 4-aminobutanoate (gamma-aminobutyric acid, GABA), the latter in a pyridoxal phosphate-independent manner (By similarity). Essential for proliferation of fetal skin fibroblasts.
    Gene Name:
    GLUL
    Uniprot ID:
    P15104
    Molecular weight:
    42064.15
    Reactions
    L-Glutamic acid → gamma-Aminobutyric acid + CO(2)details
    General function:
    Involved in carboxy-lyase activity
    Specific function:
    Catalyzes the production of GABA.
    Gene Name:
    GAD2
    Uniprot ID:
    Q05329
    Molecular weight:
    65410.77
    Reactions
    L-Glutamic acid → gamma-Aminobutyric acid + CO(2)details
    L-Glutamic acid → gamma-Aminobutyric acid + Carbon dioxidedetails

    Only showing the first 10 proteins. There are 38 proteins in total.