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FLASH GENE
Symbol AGXT contributors: mct - updated : 01-09-2009
HGNC name alanine-glyoxylate aminotransferase
HGNC id 341
Corresponding disease
PHXL1 hyperoxaluria, primary, type I
Location 2q37.3      Physical location : 241.808.161 - 241.818.535
Synonym name
  • alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)
  • serine pyruvate aminotransferase
  • alanine-glyoxylate aminotransferase
  • oxalosis I
  • glycolicaciduria
  • hepatic peroxisomal alanine:glyoxylate aminotransferase
  • Synonym symbol(s) SPAT, AGXT1, AGT1, TLH6, SPT, PH1, AGT
    EC.number 2.6.1.51, 2.6.1.44
    DNA
    TYPE functioning gene
    STRUCTURE 10.37 kb     11 Exon(s)    1 Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1611 - 392 - 2009 19479957
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • C-terminal tripeptide (KKL) are unlike those of any other type 1 peroxisomal targeting sequence (PTS1)
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Agset
    homolog to C.elegans t14d7.1
    Homologene
    FAMILY
  • class V of pyridoxal-phosphate-dependent aminotransferases family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,peroxisome
    text mitochondrial matrix in some ph1 patients
    basic FUNCTION
  • involved in glyoxylate detoxification
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS excretion
    text glyoxylate detoxication
    PATHWAY
    metabolism other
    signaling
    glyoxylate cycle pyruvate metabolism
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • pyridoxal phosphate
  • protein
  • interacts with PEX5
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PHXL1
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS