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FLASH GENE
Symbol ABAT contributors: - updated : 29-09-2006
HGNC name 4-aminobutyrate aminotransferase
HGNC id 23
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