OnlineIMD

TIMM50 deficiency

  • Synonym(s)
    • 3-methylglutaconic aciduria type 9
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • TIMM50 / Translocase Of Inner Mitochondrial Membrane 50
      • 19q13.2
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Mitochondrial import inner membrane translocase subunit TIM50
  • Disease group(s)
    • 11.2    Disorders of mitochondrial protein import