OnlineIMD

SURF1 deficiency

  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • SURF1 / SURF1, cytochrome c oxidase assembly factor
      • 9q34.2
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Surfeit locus protein 1
  • Disease group(s)
    • 7.4.2        Disorders of nuclear encoded complex IV assembly factors
  • Child entries
    • SURF1-related Charcot-Marie-Tooth disease