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