OnlineIMD

ATP synthase F1 subunit alpha deficiency

(ATP5F1A deficiency)
  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • ATP5F1A / ATP Synthase F1 Subunit Alpha
      • 18q21.1
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • ATP synthase subunit alpha, mitochondrial
  • Multimer
    • ATP synthase

  • Disease group(s)
    • 7.5        Disorders of nuclear encoded ATP synthase subunits and assembly factors