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GNE - glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

  • Synonym(s) : bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, Uae1
  • Previous symbols and names : IBM2, UDP-N-acetylglucosamine-2-epimerase/N-acetylmannos amine kinase
  • Type : gene with protein product
  • Chromosomal location : 9p13.3
  • OMIM: 603824
  • HGNC: 23657
  • UniProtKB: Q9Y223
  • Genatlas: GNE
  • Ensembl: ENSG00000159921
  • IUPHAR-DB: -
  • Reactome: Q9Y223
  • LOVD: GNE

Diseases list

  • Disease-causing germline mutation(s) in GNE myopathy
  • Disease-causing germline mutation(s) in Sialuria
  : Assessed

Additional information

Health care resources for this gene

Specialised Social Services

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