OnlineIMD

NFU1 deficiency

  • Synonym(s)
    • Multiple mitochondrial dysfunctions syndrome type 1
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • NFU1 / NFU1 iron-sulfur cluster scaffold
      • 2p13.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Iron-sulfur cluster scaffold protein NFU1, mitochondrial
  • Disease group(s)
    • 8.2        Disorders of lipoic acid and iron-sulfur metabolism