OnlineIMD

VPS53 deficiency

  • Type
    Disease
  • Gene
    • VPS53 / VPS53 vacuolar protein sorting 53 homolog
      • 17p13.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Vacuolar protein sorting-associated protein 53 homolog
  • Disease group(s)
    • 19.6.4    Other disorders of vesicular trafficking