ABAT Gene (Protein Coding)

4-Aminobutyrate Aminotransferase

GC16P008674
GIFtS:
45
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 Homocarnosinosis. Among its related pathways are Valproic acid pathway and Valine, leucine and isoleucine degradation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and iron-sulfur cluster binding. An important paralog of this gene is AGXT2.

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 608.5 +0.4 405 2.8 SP1 HNRNPL GATAD2A PRDM10 TFE3 SOX13 NFKBIZ ZNF692 RCOR2 ZSCAN4 ABAT USP7 ENSG00000260276 METTL22 PMM2 ENSG00000260349 RN7SL743P RF00017-1952 lnc-METTL22-4
GH16J008718 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 626.1 +45.9 45860 4.1 HNRNPL GATAD2A RFX1 RCOR2 FOXA1 PRDM1 RXRB POLR2A IRF2 SCRT2 ABAT RN7SL743P ENSG00000260276 USP7 piR-52079-069 lnc-METTL22-5 PMM2
GH16J008712 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE CraniofacialAtlas 607.2 +38.6 38577 2.1 RFX1 POLR2A RAD21 BMI1 USF1 RBM22 RCOR1 CTCF RFX5 USF2 ABAT lnc-METTL22-5 piR-52079-069 PMM2
GH16J008644 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 600.3 -29.6 -29619 1.3 CTCF SPI1 GABPA POLR2A MYC MAX ABAT METTL22 HSALNG0109411 piR-38352-211
GH16J008716 Promoter/Enhancer 0.8 EPDnew Ensembl 614.2 +41.8 41784 1.2 KDM1A ZFP69B ATF4 CEBPG ZMYM3 CEBPB ABAT METTL22 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

Genomic Locations for ABAT Gene
chr16:8,674,596-8,784,575
(GRCh38/hg38)
Size:
109,980 bases
Orientation:
Plus strand
chr16:8,768,422-8,878,432
(GRCh37/hg19)
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

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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:

Antibody Products

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
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

Products:

  1. Drug

(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 Inhibitor, Inhibition, Target, inhibitor GABA-T inhibitor 27
Phenelzine Approved Pharma Target, inhibitor 10
Glutamic acid Approved Nutra Agonist, Full agonist, Target 304
Pyridoxal Phosphate Approved, Investigational Nutra Target, inhibitor 16
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)-b-aminoisobutyric acid
  • (S)-3-amino-2-Methylpropanoic acid
  • (S)-3-amino-Isobutanoic acid
  • (S)-3-amino-Isobutyric acid
  • (S)-beta-Aminoisobutyric acid
  • L-3-amino-Isobutanoic 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
  • beta-Alanyl-coenzyme A

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ABAT Gene

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

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

Products:

  1. Primer
  2. Gene Expression Assay

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 BioGPS for ABAT GenemRNA expression by GTEx 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(2.4)

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 30 31
  • 99.33 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ABAT 30 31
  • 90.93 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ABAT 30 31
  • 90.13 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 89 (a)
 OneToMany
-- 31
  • 83 (a)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Abat 30
  • 87.53 (n)
Mouse
(Mus musculus)
 Mammalia Abat 30 17 31
  • 87.2 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ABAT 31
  • 87 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ABAT 30 31
  • 78 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ABAT 31
  • 89 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia abat 30
  • 73 (n)
Str.7135 30
African clawed frog
(Xenopus laevis)
 Amphibia MGC68458 30
Zebrafish
(Danio rerio)
 Actinopterygii abat 30 31
  • 68.07 (n)
 OneToOne
Dr.5312 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG7433 30 31 32
  • 60.69 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006966 30
  • 58.78 (n)
Worm
(Caenorhabditis elegans)
 Secernentea gta-1 30 31
  • 51.76 (n)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AGL050C 30
  • 52.03 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes UGA1 30 31 33
  • 51.35 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F20548g 30
  • 51.13 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU08998 30
  • 57.99 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes uga1 30
  • 52.07 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.10243 31
  • 52 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.9327 30
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

Paralogs for ABAT Gene

Paralogs for ABAT Gene

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

Variants for ABAT Gene

Products:

  1. SNP Genotyping and Copy Number Assay

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
639628 Uncertain Significance: Gamma-aminobutyric acid transaminase deficiency 8,768,834(+) C/T MISSENSE_VARIANT
641881 Uncertain Significance: Gamma-aminobutyric acid transaminase deficiency 8,748,129(+) A/G MISSENSE_VARIANT
645856 Uncertain Significance: Gamma-aminobutyric acid transaminase deficiency 8,766,250(+) G/C MISSENSE_VARIANT
646722 Uncertain Significance: Gamma-aminobutyric acid transaminase deficiency 8,750,537(+) T/C MISSENSE_VARIANT
649920 Uncertain Significance: Gamma-aminobutyric acid transaminase deficiency 8,768,927(+) A/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ABAT Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ABAT Gene

MalaCards: The human disease database

(17) MalaCards diseases for ABAT Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gaba-transaminase deficiency
  • gamma-aminobutyric acid transaminase deficiency
homocarnosinosis
  • homocarnosinase deficiency
succinic semialdehyde dehydrogenase deficiency
  • ssadhd
glycine encephalopathy
  • gce
gamma-amino butyric acid metabolism disorder
  • disorder of gamma-aminobutyric acid metabolism
- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for ABAT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ABAT: view

No data available for Genatlas for ABAT Gene

Publications for ABAT Gene

  1. 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 23 41
  2. 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 23 41
  3. 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 23
  4. 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. (PMID: 10407778) Medina-Kauwe LK … Gibson KM (Journal of inherited metabolic disease 1999) 3 4 23
  5. Screening and sequence determination of a cDNA encoding the human brain 4-aminobutyrate aminotransferase. (PMID: 7721088) Osei YD … Churchich JE (Gene 1995) 2 3 4

ExternalLinks

View latest publications for ABAT gene in Mastermind

Products for ABAT Gene

  • Signalway Proteins for ABAT

Sources for ABAT Gene