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ABAT Gene

protein-coding   GIFtS: 65

GC16P008675
4-aminobutyrate aminotransferase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
EC 2.6.1.19,EC 2.6.1.22 3
FLJ17813 2
G 5
GABA-AT 2, 3
GABA-T 3
GABAT 1, 2, 3
L-AIBAT 3
NPD009 2
Descriptions
(S)-3-amino-2-methylpropionate transaminase 3
4-aminobutyrate aminotransferase 2
GABA aminotransferase 2, 3
GABA transaminase 3
GABA transferase 2
Gamma-amino-N-butyrate transaminase 2, 3
External Ids
HGNC: 231
Entrez Gene: 182
UniProtKB: P804043
Ensembl: ENSG000001830447
Search outside databases for aliases for ABAT gene

Previous GC identifers: GC16P008572 GC16P008868 GC16P008735

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ABAT:
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]

UniProtKB/Swiss-Prot: GABT_HUMAN, P80404
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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ABAT gene  

Entrez Gene cytogenetic band: 16p13.2   Ensembl cytogenetic band:  16p13.2   HGNC cytogenetic band: 16p13.2

ABAT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P008675:     (about GC identifiers)

Start:
8,675,928 bp from pter
End:
8,785,933 bp from pter
Size:
110,006 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000016.8  NT_010393.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: GABT_HUMAN, P80404 (See protein sequence)
Recommended Name: 4-aminobutyrate aminotransferase, mitochondrial precursor  
Size: 500 amino acids; 56439 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer (By similarity)
Subcellular location: Mitochondrion matrix
Secondary accessions: A8K386 Q16260 Q8N5W2 Q96BG2 Q99800

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (3 alternative transcripts): 
    NP_000654.2  NP_001120920.1  NP_065737.2  


    ENSEMBL proteins: 
    ENSP00000268251 ENSP00000379845 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (ABAT)
    Human Recombinant Proteins from Abnova (ABAT)
                   OriGene Purified Recombinant Human Proteins (see all 2): ABAT  

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739 mitochondrion ISS--
    GO:0005759 mitochondrial matrix IEA--
    GO:0032144 4-aminobutyrate transaminase complex IDA15528998
    About this table

    Antibodies for ABAT: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for ABAT
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (ABAT), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (ABAT)
    Novus Biologicals Antibody for ABAT

    Assays for ABAT: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    3 InterPro domains/families:
     IPR004631 4NH2But_aminotransferase_euk
     IPR005814 Aminotrans_3
     IPR015421 PyrdxlP-dep_Trfase_major_sub1


       GeneDecks  ABAT for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P80404

    ProtoNet protein and cluster: P80404

    1 Blocks protein family: IPB005814 Aminotransferase class-III

    UniProtKB/Swiss-Prot: GABT_HUMAN, P80404
    Similarity: Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ABAT)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_000663

                  Applied Biosystems Silencer® siRNAs for ABAT

                  Sigma-Aldrich siRNA and siRNA Panels for ABAT  
                         Sigma-Aldrich shRNA for ABAT  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for ABAT
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000663
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000663
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_000663 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000663

    UniProtKB/Swiss-Prot: GABT_HUMAN, P80404
    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
    Catalytic activity: 4-aminobutanoate + 2-oxoglutarate = succinate semialdehyde + L-glutamate
    Catalytic activity: (S)-3-amino-2-methylpropanoate + 2-oxoglutarate = 2-methyl-3-oxopropanoate +
    L-glutamate
    Enzyme Number (IUBMB): EC 2.6.1.19,EC 

    5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003867contributes to 4-aminobutyrate transaminase activity IDA15528998
    GO:0005515 protein binding IPI17474147
    GO:0016740 transferase activity IEA--
    GO:0030170 pyridoxal phosphate binding IDA15650327
    GO:0032145 succinate-semialdehyde dehydrogenase binding ISS--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    2 Invitrogen iPath™ Online BioAtlas - Pathways for ABAT (Maps provided by GeneGo):
     Propionate metabolism. Part II
     Histidine, proline, glutamate and glutamine metabolism

       GeneDecks  ABAT for the pathways selected above  
    About GeneDecksing

    5/7 Sigma-Aldrich "Your Favorite Gene" Pathways for  ABAT  (Your Favorite Gene powered by Ingenuity) (see all 7
     GABA Receptor Signaling
     Alanine and Aspartate Metabolism
     Propanoate Metabolism
     Butanoate Metabolism
     Valine, Leucine and Isoleucine Degradation

       GeneDecks  ABAT for the pathways selected above  
    About GeneDecksing

    5/6 Kegg Pathways  (Kegg details for ABAT) (see all 6 ):
     hsa00251 Glutamate metabolism
     hsa00252 Alanine and aspartate metabolism
     hsa00280 Valine, leucine and isoleucine degradation
     hsa00410 beta-Alanine metabolism
     hsa00640 Propanoate metabolism

       GeneDecks  ABAT for the pathways selected above  
    About GeneDecksing

    5/23 Interacting proteins for ABAT (P804041 ENSP000002682513) via UniProtKB, MINT, and/or STRING (see all 23 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRKP461081EBI-1753838, EBI-886
    ALDH5A1ENSP000003146493STRING (score=.997)
    GAD1ENSP000003509283STRING (score=.982)
    GAD2ENSP000002592713STRING (score=.982)
    CNDP1ENSP000003516823STRING (score=.958)
    About this table

    4 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007610 behavior NAS11918424
    GO:0009450 gamma-aminobutyric acid catabolic process NAS15528998
    GO:0042135 neurotransmitter catabolic process NAS15528998
    GO:0048148 behavioral response to cocaine ISS--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for ABAT
    Sigma-Aldrich Small Molecules for ABAT:
    Inhibitor

    Compounds for ABAT available from Tocris Bioscience
    CompoundAction CAS number
    VigabatrinGABA-T inhibitor[60643-86-9]
    3-Methyl-GABAActivator of GABA amino-transferase[71424-95-8]
    About this table


    10/16 Novoseek chemical compound relationships for ABAT gene (see all 16 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    succinic semialdehyde 92.82 34 18846220 (3), 8412016 (2), 14984687 (1), 12891648 (1) (see all 20)
    aba-t 92.71 11 15830322 (4), 19294962 (2), 18334916 (1), 15642443 (1) (see all 6)
    p-hydroxybenzaldehyde 63.47 7 16290145 (2), 16690313 (1), 19138517 (1)
    beta-alanine 52.02 3 16435204 (1), 12238932 (1)
    nipecotic acid 50.34 1 8101728 (1)
    ornithine 41.01 4 16096275 (1), 7592550 (1), 17504214 (1), 18398873 (1)
    2-mercaptoethanol 28.33 2 15528998 (1), 14640537 (1)
    carboxylate 10.13 2 10579835 (1)
    taurine 5.80 3 14567543 (3)
    lysine 0.00 1 1901730 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ABAT)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_000663

                  Sigma-Aldrich siRNA and siRNA Panels for ABAT  
                         Sigma-Aldrich shRNA for ABAT  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000663  NM_001127448  NM_020686  

    REFSEQ mRNAs for ABAT gene (3 alternative transcripts): 

    NM_000663.4   NM_001127448.1   NM_020686.5   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000663  NM_001127448  NM_020686  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000663
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000663
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_000663 

    Additional cDNA sequence: 

    AF237813.1 AK290501.1 AK293983.1 AK310771.1 AL137454.1 BC008990.1 BC013965.2 BC015628.2 
    BC031413.1 BC075851.1 BX537362.1 CR593324.1 CR599622.1 L32961.1 S75578.1 U80226.1 

    13 DOTS entries:

    DT.454527  DT.101983594  DT.99933573  DT.100814053  DT.100723837  DT.100777194  DT.99981159  DT.100814054 
    DT.120686051  DT.452778  DT.91773661  DT.100008010  DT.120686077 

    24/270 AceView cDNA sequences (see all 270 ):

    BG060102 CR599622 CB250491 AV651195 AV727134 AI445779 AW572541 AI284203 
    AA319794 AW196473 AI248676 BM876183 T33495 AV652821 AI076281 AI580324 
    AA331613 AW024973 BF196112 NM_000663 BC015628 NM_020686 AI282925 BG056506 

    highest scoring ESTs for ABAT:

    L32961 AA203138 AA233454 AA233527 AA319352 AA319794 AA332265 AA332691 AA334268 AA337336 

    Unigene Cluster for ABAT:

    4-aminobutyrate aminotransferase
    Hs.336768  [show with all ESTs]
    Unigene Representative Sequence: NM_000663


    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ABAT (see all 8 )

    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:                          -                                                                                                                                 

    About this scheme

    ECgene alternative splicing isoforms for ABAT

    2 Ensembl transcripts including schematic representations:
    ENST00000268251  ENST00000396600  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    ABAT expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for ABAT

    1 / 2 / 3

    9 probe-sets matching ABAT gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    36364_at2, 3 U95-A 1 1.00 1.00 0.96 0.75 L32961 1.00 0.87 0.94 1
    33446_at2, 3 U95-A 1 1.00 1.00 0.97 1.05 W26407 0.60 1.00 0.82 1

    68707_at2, 3 U95-E 1 0.94 1.00 -0.38 1.28 AA806200 0.60 1.00 0.82 1

    206527_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000663 0.60 1.00 0.82 1

    209460_at2, 3 U133-A 1 1.00 1.00 -- -- AF237813 0.80 1.00 0.91 1

    209459_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF237813 0.80 1.00 0.91 1

    206527_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    209460_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    209459_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  ABAT for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.336768

    Expression variation in blood from EXPOLDB for ABAT

    UniProtKB/Swiss-Prot: GABT_HUMAN, P80404
    Tissue specificity: Liver > pancreas > brain > kidney > heart > placenta

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for ABAT gene from 5/19 species (see all 19 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ABAT1   -- 4-aminobutyrate aminotransferase 90.95(n)
    94.77(a)
    479856  XM_846331.1  XP_851424.1 
    chimpanzee
    (Pan troglodytes)
    ABAT1   -- 4-aminobutyrate aminotransferase 99.33(n)
    98.8(a)
    453903  XM_001137090.1  XP_001137090.1 
    cow
    (Bos taurus)
    ABAT1   -- 4-aminobutyrate aminotransferase 90.2(n)
    94.2(a)
    506219  XM_582638.3  XP_582638.2 
    rat
    (Rattus norvegicus)
    Abat1   -- 4-aminobutyrate aminotransferase 87.53(n)
    91.8(a)
    81632  NM_031003.1  NP_112265.1 
    mouse
    (Mus musculus)
    Abat1, 5 165
    4-aminobutyrate aminotransferase1, 5 87.2(n)1
    91.2(a)1
    2688601  NM_172961.21  NP_766549.21 
     AI2557505  AI8531235  (see all 17)
    About this table        Species with no ortholog for ABAT

    ENSEMBL Gene Tree for ABAT
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for ABAT gene
    OAT2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/1078 NCBI SNPs in ABAT are shown (see all 1078 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 334)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 16 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs7376951,2
    A,C,F,H8783046(-) CTTCCC/GAAGAT 3 -- ut316Minor allele frequency- G:0.31NA EA EU WA 575
    rs49850001,2
    A,C,F,H8783778(+) CACTTC/GTGAGC 3 -- ut31 ese38Minor allele frequency- G:0.33EA NA EU WA 610
    rs37438011,2
    A,C,F,H8783703(+) GGCAAC/GTTGAG 3 -- ut31 ese38Minor allele frequency- G:0.47EA NA EU WA 2064
    --
    rs22702881,2
    A,C,F,H8783030(+) CTTGAG/TCCCTG 3 -- ut31 ese34Minor allele frequency- T:0.45EU EA WA 412
    rs72058161,2
    A,C,F,H8783919(+) TCAACA/GTGGTT 3 -- ut31 ese312Minor allele frequency- N:0.00EA NA EU WA 1042
    rs125971241,2
    A,C,F,H8785355(+) TTTAGG/CTAGAA 3 -- ut31 ese38Minor allele frequency- C:0.34NA EA EU WA 774
    rs37437981,2
    A,C,F,H8783300(+) TGCAGG/AAGGGA 3 -- ut31 ese37Minor allele frequency- A:0.45EA NA EU WA 2088
    rs116483721,2
    A,C,F,H8784902(+) AAGGCA/GTATCA 3 -- ut314Minor allele frequency- G:0.33EU EA WA 420
    rs49850361,2
    A,C,F,H8784721(+) TGCTAC/TGACAG 3 -- ut31 ese311Minor allele frequency- T:0.04NA EU EA WA 978
    rs17310171,2
    A,C,F,H8747455(-) TCACCC/TGAGAT 3 Q/R mis1 ese317Minor allele frequency- A:0.01MN EA EU WA NA 2872
    About this table

    HapMap Linkage Disequilibrium images for ABAT (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 137150

    UniProtKB/Swiss-Prot: GABT_HUMAN, P80404

  • Defects in ABAT are a cause of GABA-AT deficiency [MIM:137150]. The phenotype of this
    deficiency includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory
    seizures, and EEG abnormalities
  • 10/19 Novoseek disease relationships for ABAT gene (see all 19 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    homocarnosinosis 87.47 2 15021235 (2)
    visual field constriction 79.20 2 16793827 (1), 16675198 (1)
    epilepsy 70.63 19 1396437 (1), 14984687 (1), 12358316 (1), 1652757 (1) (see all 19)
    complex partial seizures 65.50 2 7750512 (1)
    hyperglycinemia nonketotic 58.88 1 17690069 (1)
    deficiency diseases 48.89 4 9746906 (3)
    cocaine addiction 40.21 2 10503933 (1)
    neurological disorders 34.19 5 8979623 (1), 17128990 (1), 16314106 (1), 15650327 (1) (see all 5)
    epilepsy generalized 32.00 1 1313057 (1)
    autistic 31.15 4 12160695 (3), 11918424 (1)
    About this table

    Human Gene Mutation Database: ABAT
    Genetic Association Database: ABAT
    Human Genome Epidemiology Navigator: ABAT (2 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/145 PubMed articles for ABAT gene (see all 145 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 18 HGNC: 23 AceView: ABAT Ensembl:ENSG00000183044 euGenes: HUgn18
    ECgene: ABAT H-InvDB: ABAT
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=ABAT
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ABAT+%40+GABAT
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for ABAT:
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      Free SNP selection tool



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     Tocris compounds for ABAT




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     Antibodies for ABAT

    GeneCards Homepage    -    Last full update: 1 Jul 2009        Incremental update: 13 Oct 2009

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