OnlineIMD

Mitochondrial aspartate aminotransferase deficiency

  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • GOT2 / Glutamate-Oxaloacetate Transaminase 2
      • 16q21
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Glutamate-oxaloacetate transaminase, mitochondrial
  • Pathway
    • Pyruvate metabolism and Krebs cycle
  • Disease group(s)
    • 5.2        Disorders of the Krebs cycle