OnlineIMD

YME1L1 deficiency

  • Synonym(s)
    • Optic atrophy type 11
  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • YME1L1 / YME1 Like 1 ATPase
      • 10p12.1
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • ATP-dependent zinc metalloprotease YME1L1
  • Disease group(s)
    • 11.3    Disorders of mitochondrial protein quality control