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FLASH GENE
Symbol ABAT contributors: - updated : 29-09-2006
HGNC name 4-aminobutyrate aminotransferase
HGNC id 23
Corresponding disease
ABAT GABA-transaminase deficiency
Location 16p13.3      Physical location : 8.768.443 - 8.878.431
Synonym name
  • gamma-amino-N-butyrate transaminase
  • S3-amino-2-methylpropionate transaminase
    • Synonym symbol(s) GABAT, NPD009, GABA-AT, L-AIBAT
    EC.number 2.6.1.19, 2.6.1.22
    DNA
    TYPE functioning gene
    STRUCTURE 109.00 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 4831 - 500 - Barnby
    - splicing 5463 - 500 - Barnby
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Endocrinepancreas    
    Nervousbrain    
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to drosophila CG7433
    homolog to C.elegans K04D7.3
    homolog to pig protein
    Homologene
    FAMILY
  • class-III of pyridoxal-phosphate-dependent aminotransferases family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • transfering an amino group from 4-aminobutyrate (GABA) to alpha-ketoglutarate to form succinate semialdehyde and glutamic acid
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    catabolism of gamma-aminobutyric acid (GABA)
    a component
  • a homodimer of 50-kDa subunits complexed to pyridoxal-5-phosphate
    • INTERACTION
    DNA
    RNA
    small molecule cofactor,
    pyridoxal-5-phosphate
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ABAT
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in mental retardation, hypotonia, hyperreflexia, lethargy, refractory seizures and EEG abnormalities
    Susceptibility to autism
    Variant & Polymorphism SNP increasing the risk of autism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS