ABAT Gene (Protein Coding)

4-Aminobutyrate Aminotransferase

GC16P008674
GIFtS:
46
4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated t... See more...

Aliases for ABAT Gene

Aliases for ABAT Gene

  • 4-Aminobutyrate Aminotransferase 2 3 5
  • GABA Transaminase 2 3 4
  • GABAT 2 3 4
  • 4-Aminobutyrate Aminotransferase, Mitochondrial 3 4
  • (S)-3-Amino-2-Methylpropionate Transaminase 3 4
  • Gamma-Aminobutyrate Aminotransferase 2 3
  • Gamma-Amino-N-Butyrate Transaminase 3 4
  • 4-Aminobutyrate Transaminase 2 3
  • GABA Aminotransferase 3 4
  • GABA-AT 3 4
  • GABA-T 2 4
  • GABA Transferase 3
  • EC 2.6.1.19 4
  • EC 2.6.1.22 4
  • L-AIBAT 4
  • NPD009 3
  • ABAT 5

External Ids for ABAT Gene

Previous GeneCards Identifiers for ABAT Gene

  • GC16P008572
  • GC16P008868
  • GC16P008735
  • GC16P008675
  • GC16P008768

Summaries for ABAT Gene

Entrez Gene Summary for ABAT Gene

  • 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABAT Gene

ABAT (4-Aminobutyrate Aminotransferase) is a Protein Coding gene. Diseases associated with ABAT include Gaba-Transaminase Deficiency and Gaba Aminotransferase Deficiency. Among its related pathways are Beta-alanine metabolism (TR) and Neurotransmitter Release Cycle. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and iron-sulfur cluster binding. An important paralog of this gene is ETNPPL.

UniProtKB/Swiss-Prot Summary for ABAT Gene

  • 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.

Additional gene information for ABAT Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABAT Gene

Genomics for ABAT Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ABAT Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16J008673 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 258.5 +0.5 505 3 SP1 ZNF600 SSRP1 KLF9 CEBPA NFIC POLR2A CHD4 MXD4 CTCF ABAT USP7 ENSG00000260276 METTL22 PMM2 ENSG00000260349 lnc-METTL22-4
GH16J008718 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 276.1 +45.9 45860 4.1 ZMYM3 CHD4 MXD4 SIN3A FOXA2 KDM6A MAFF SMAD4 SAP130 RARA ABAT RN7SL743P ENSG00000260276 USP7 piR-52079-069 lnc-METTL22-5 PMM2
GH16J008712 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE CraniofacialAtlas 257.2 +38.5 38477 1.9 RBM22 RFX1 GATA2 PKNOX1 USF2 RAD21 POLR2A BMI1 USF1 ABAT lnc-METTL22-5 piR-52079-069 PMM2
GH16J008644 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 250.3 -29.6 -29619 1.3 CTCF GABPA SPI1 MYC MAX POLR2A ABAT METTL22 HSALNG0109411 HSALNG0109412
GH16J008716 Promoter 0.5 EPDnew 250.3 +41.5 41456 0.1 ZMYM3 KDM1A ABAT lnc-METTL22-5 piR-52079-069 PMM2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABAT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABAT

Top Transcription factor binding sites by QIAGEN in the ABAT gene promoter:
  • E47
  • FAC1
  • Ik-1
  • NF-kappaB
  • NF-kappaB1
  • RelA
  • Tal-1beta
  • TGIF

Genomic Locations for ABAT Gene

Latest Assembly
chr16:8,674,596-8,784,575
(GRCh38/hg38)
Size:
109,980 bases
Orientation:
Plus strand

Previous Assembly
chr16:8,768,474-8,878,427
(GRCh37/hg19 by Entrez Gene)
Size:
109,954 bases
Orientation:
Plus strand

chr16:8,768,422-8,878,432
(GRCh37/hg19 by Ensembl)
Size:
110,011 bases
Orientation:
Plus strand

Genomic View for ABAT Gene

Genes around ABAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABAT Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ABAT Gene

Proteins for ABAT Gene

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  • Protein details for ABAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P80404-GABT_HUMAN
    Recommended name:
    4-aminobutyrate aminotransferase, mitochondrial
    Protein Accession:
    P80404
    Secondary Accessions:
    • A8K386
    • Q16260
    • Q8N5W2
    • Q96BG2
    • Q99800

    Protein attributes for ABAT Gene

    Size:
    500 amino acids
    Molecular mass:
    56439 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Cofactor:
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601;
    Quaternary structure:
    • Homodimer; disulfide-linked.

neXtProt entry for ABAT Gene

Protein Expression for ABAT Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ABAT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ABAT Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ABAT Gene

Domains & Families for ABAT Gene

Gene Families for ABAT Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ABAT Gene

InterPro:
Blocks:
  • Aminotransferase class-III

Suggested Antigen Peptide Sequences for ABAT Gene

GenScript: Design optimal peptide antigens:
  • L-AIBAT (GABT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P80404

UniProtKB/Swiss-Prot:

GABT_HUMAN :
  • Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with ABAT: view

Function for ABAT Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for ABAT Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + 4-aminobutanoate = L-glutamate + succinate semialdehyde; Xref=Rhea:RHEA:23352, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:57706, ChEBI:CHEBI:59888; EC=2.6.1.19;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(S)-3-amino-2-methylpropanoate + 2-oxoglutarate = 2-methyl-3-oxopropanoate + L-glutamate; Xref=Rhea:RHEA:13993, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:57700, ChEBI:CHEBI:58655; EC=2.6.1.22;.

Enzyme Numbers (IUBMB) for ABAT Gene

Phenotypes From GWAS Catalog for ABAT Gene

Gene Ontology (GO) - Molecular Function for ABAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003867 contributes_to 4-aminobutyrate transaminase activity IDA 15528998
GO:0008483 transaminase activity IEA --
GO:0016740 transferase activity IEA --
GO:0030170 pyridoxal phosphate binding IBA,IDA 15650327
genes like me logo Genes that share ontologies with ABAT: view
genes like me logo Genes that share phenotypes with ABAT: view

Human Phenotype Ontology for ABAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABAT

Clone products for research

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ABAT Gene

Localization for ABAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABAT Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABAT gene
Compartment Confidence
mitochondrion 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,ISS --
GO:0005759 mitochondrial matrix TAS --
GO:0032144 4-aminobutyrate transaminase complex IDA 15528998
GO:0043005 neuron projection IEA --
genes like me logo Genes that share ontologies with ABAT: view

Pathways & Interactions for ABAT Gene

genes like me logo Genes that share pathways with ABAT: view

Pathways by source for ABAT Gene

1 Sino Biological pathway for ABAT Gene
1 PharmGKB pathway for ABAT Gene
1 GeneGo (Thomson Reuters) pathway for ABAT Gene
  • Beta-alanine metabolism

Gene Ontology (GO) - Biological Process for ABAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0007568 aging IEA --
GO:0007620 copulation IEA --
GO:0007626 locomotory behavior IEA --
GO:0009448 gamma-aminobutyric acid metabolic process IDA 15528998
genes like me logo Genes that share ontologies with ABAT: view

No data available for SIGNOR curated interactions for ABAT Gene

Drugs & Compounds for ABAT Gene

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(48) Drugs for ABAT Gene - From: DrugBank, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vigabatrin Approved Pharma Target, inhibitor GABA-T inhibitor 30
Phenelzine Approved Pharma Target, inhibitor 10
Glutamic acid Approved Nutra Target 324
Pyridoxal Phosphate Approved, Investigational Nutra Target, inhibitor 18
Pyruvic acid Approved, Investigational Nutra Target, inhibitor 0

(21) Additional Compounds for ABAT Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-beta-Aminoisobutyric acid
  • (S)-3-Amino-2-methylpropanoic acid
  • (S)-3-Amino-isobutanoic acid
  • (S)-3-Amino-isobutyric acid
  • L-3-Amino-isobutanoic acid
  • L-3-Amino-isobutyric acid
 4249-19-8
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
  • (2S)-2-Methyl-3-oxopropanoate
  • (2S)-2-Methyl-3-oxopropanoic acid
 99043-16-0
2-Methyl-3-oxopropanoic acid
  • 2-Methyl-3-oxopropanoate
  • 3-oxo-2-Methylpropanoate
  • Methylmalonate semialdehyde
  • 3-oxo-2-Methylpropanoic acid
  • Methylmalonic acid semialdehyde
 6236-08-4
4-ene-Valproic acid
  • 4-En-valproic acid
  • 4-Ene-vpa
  • 4-En-valproate
  • 4-Ene-valproate
  • 2-Propyl-4-pentenoic acid, (+-)-isomer
Beta-Alanyl-CoA
  • b-Alanyl-CoA
  • Β-alanyl-CoA
  • beta-Alanyl-coenzyme A
  • 4-({[({[(2R,3S,4R,5R)-5-(6-amino-9H-purin-9-yl)-4-hydroxy-3-(phosphonooxy)oxolan-2-yl]methoxy}(hydroxy)phosphoryl)oxy](hydroxy)phosphoryl}oxy)-N-[2-({2-[(3-aminopropanoyl)sulfanyl]ethyl}-C-hydroxycarbonimidoyl)ethyl]-2-hydroxy-3,3-dimethylbutanimidate
  • 4-({[({[(2R,3S,4R,5R)-5-(6-amino-9H-purin-9-yl)-4-hydroxy-3-(phosphonooxy)oxolan-2-yl]methoxy}(hydroxy)phosphoryl)oxy](hydroxy)phosphoryl}oxy)-N-[2-({2-[(3-aminopropanoyl)sulphanyl]ethyl}-C-hydroxycarbonimidoyl)ethyl]-2-hydroxy-3,3-dimethylbutanimidate

(5) Tocris Compounds for ABAT Gene

Compound Action Cas Number
3-Methyl-GABA Activator of GABA amino-transferase 71424-95-8
N-Acetyltryptamine Substrate for serotonin N-acetyl transferase 1016-47-3
P-3FAX-Neu5Ac Sialic acid analog; sialyltransferase inhibitor 117405-58-0
Tunicamycin Antibiotic; GlcNAc phosphotransferase inhibitor 11089-65-9
Vigabatrin GABA-T inhibitor 60643-86-9
genes like me logo Genes that share compounds with ABAT: view

Transcripts for ABAT Gene

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mRNA/cDNA for ABAT Gene

20 REFSEQ mRNAs :
29 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABAT

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for ABAT Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: - - - - - - - - -
SP2: -
SP3: - - - - - - -
SP4: - -
SP5: -
SP6: -
SP7: - - -
SP8:

Relevant External Links for ABAT Gene

GeneLoc Exon Structure for
ABAT

Expression for ABAT Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABAT Gene

mRNA expression in normal human tissues for ABAT Gene
mRNA expression by GTEx for ABAT GenemRNA expression by BioGPS for ABAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABAT Gene

This gene is overexpressed in Liver (x5.3) and Brain - Nucleus accumbens (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for ABAT Gene

This gene is overexpressed in Liver, secretome (39.8) and Liver (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABAT Gene



Protein tissue co-expression partners for ABAT Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABAT

SOURCE GeneReport for Unigene cluster for ABAT Gene:

Hs.336768

mRNA Expression by UniProt/SwissProt for ABAT Gene:

P80404-GABT_HUMAN
Tissue specificity: Liver > pancreas > brain > kidney > heart > placenta.

Evidence on tissue expression from TISSUES for ABAT Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Eye(4.5)
  • Pancreas(4.5)
  • Kidney(2.6)
  • Intestine(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABAT Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • skull
General:
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with ABAT: view

Orthologs for ABAT Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ABAT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ABAT 29 30
  • 99.33 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ABAT 29 30
  • 90.93 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ABAT 29 30
  • 90.13 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 89 (a)
 OneToMany
-- 30
  • 83 (a)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Abat 29
  • 87.53 (n)
Mouse
(Mus musculus)
 Mammalia Abat 29 16 30
  • 87.2 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ABAT 30
  • 87 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ABAT 29 30
  • 78 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ABAT 30
  • 89 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia abat 29
  • 73 (n)
Str.7135 29
African clawed frog
(Xenopus laevis)
 Amphibia MGC68458 29
Zebrafish
(Danio rerio)
 Actinopterygii abat 29 30
  • 68.07 (n)
 OneToOne
Dr.5312 29
Fruit Fly
(Drosophila melanogaster)
 Insecta CG7433 29 30 31
  • 60.69 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006966 29
  • 58.78 (n)
Worm
(Caenorhabditis elegans)
 Secernentea gta-1 29 30
  • 51.76 (n)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AGL050C 29
  • 52.03 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes UGA1 29 30 32
  • 51.35 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F20548g 29
  • 51.13 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU08998 29
  • 57.99 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes uga1 29
  • 52.07 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.10243 30
  • 52 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.9327 29
Species where no ortholog for ABAT was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ABAT Gene

ENSEMBL:
Gene Tree for ABAT (if available)
TreeFam:
Gene Tree for ABAT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABAT: view image
Alliance of Genome Resources:
Additional Orthologs for ABAT

Paralogs for ABAT Gene

Paralogs for ABAT Gene

genes like me logo Genes that share paralogs with ABAT: view

Variants for ABAT Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABAT Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
1001431 Uncertain Significance: Gamma-aminobutyric acid transaminase deficiency 8,779,483(+) G/T
NM_020686.6(ABAT):c.1274G>T (p.Arg425Leu) 		MISSENSE
1005042 Uncertain Significance: Gamma-aminobutyric acid transaminase deficiency 8,735,783(+) A/T
NM_020686.6(ABAT):c.44A>T (p.Gln15Leu) 		MISSENSE
1007994 Uncertain Significance: Gamma-aminobutyric acid transaminase deficiency 8,779,596(+) G/T
NM_020686.6(ABAT):c.1381+6G>T 		INTRON
1008220 Uncertain Significance: Gamma-aminobutyric acid transaminase deficiency 8,757,771(+) G/A
NM_020686.6(ABAT):c.331G>A (p.Ala111Thr) 		MISSENSE
1008272 Uncertain Significance: Gamma-aminobutyric acid transaminase deficiency 8,768,918(+) C/T
NM_020686.6(ABAT):c.761C>T (p.Pro254Leu) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ABAT Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ABAT Gene

Variant ID Type Subtype PubMed ID
dgv341n27 CNV gain 19166990
dgv4906n54 CNV gain 21841781
esv2385301 CNV deletion 18987734
esv2660203 CNV deletion 23128226
esv2762154 CNV gain 21179565
esv3553088 CNV deletion 23714750
esv3570276 CNV gain 25503493
esv3637839 CNV loss 21293372
esv3637840 CNV loss 21293372
esv3637841 CNV gain 21293372
esv3637842 CNV gain 21293372
esv3637843 CNV loss 21293372
esv3637844 CNV gain 21293372
esv3637845 CNV gain 21293372
esv3892787 CNV gain 25118596
nsv1035233 CNV gain 25217958
nsv1036125 CNV loss 25217958
nsv1036281 CNV gain 25217958
nsv1037325 CNV gain 25217958
nsv1043667 CNV gain 25217958
nsv1047172 CNV gain 25217958
nsv1048675 CNV gain 25217958
nsv1127470 CNV deletion 24896259
nsv457393 CNV gain 19166990
nsv457394 CNV gain 19166990
nsv457398 CNV gain 19166990
nsv522342 CNV loss 19592680
nsv522898 CNV gain 19592680
nsv523677 CNV loss 19592680
nsv571406 CNV gain 21841781
nsv571409 CNV gain 21841781
nsv571424 CNV gain 21841781
nsv571427 CNV gain 21841781
nsv571428 CNV gain 21841781
nsv984256 CNV duplication 23825009

Variation tolerance for ABAT Gene

Residual Variation Intolerance Score: 25.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABAT Gene

Human Gene Mutation Database (HGMD)
ABAT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABAT
Leiden Open Variation Database (LOVD)
ABAT

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABAT Gene

Disorders for ABAT Gene

MalaCards: The human disease database

(18) MalaCards diseases for ABAT Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
gaba-transaminase deficiency
  • 4 alpha aminobutyrate transaminase deficiency
gaba aminotransferase deficiency
  • gamma-amino butyric acid transaminase deficiency
homocarnosinosis
  • homocarnosinase deficiency
succinic semialdehyde dehydrogenase deficiency
  • ssadhd
mitochondrial dna maintenance defects
  • mitochondrial dna maintenance syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ABAT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GABT_HUMAN
  • GABA transaminase deficiency (GABATD) [MIM:613163]: An enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. {ECO:0000269 PubMed:10407778}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ABAT

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Publications for ABAT Gene

  1. 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. (PMID: 10407778) Medina-Kauwe LK … Gibson KM (Journal of inherited metabolic disease 1999) 3 4 22 72
  2. A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. (PMID: 20052547) Tsuji M … Osaka H (Journal of inherited metabolic disease 2010) 3 22 72
  3. 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. (PMID: 18334916) Inada T … Arinami T (Pharmacogenetics and genomics 2008) 3 22 40
  4. An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia. (PMID: 15642443) Zhang B … Shen Y (European psychiatry : the journal of the Association of European Psychiatrists 2005) 3 22 40
  5. Cysteine-321 of human brain GABA transaminase is involved in intersubunit cross-linking. (PMID: 15528998) Yoon CS … Choi SY (Molecules and cells 2004) 3 4 22

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