OnlineIMD

AIMP1/p43 deficiency

  • Synonym(s)
    • Hypomyelinating leukodystrophy type 3
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • AIMP1 / Aminoacyl tRNA Synthetase Interacting Multifunctional Protein 1
      • 4q24
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Multisynthetase complex auxiliary component p38
  • Disease group(s)
    • 16.4.1    Disorders of non-mitochondrial tRNA processing