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DKC1 - dyskerin pseudouridine synthase 1

  • Synonym(s) : Cbf5, dyskerin, H/ACA ribonucleoprotein complex subunit 4, NAP57, NOLA4, XAP101
  • Previous symbols and names : DKC, dyskeratosis congenita 1, dyskerin
  • Type : gene with protein product
  • Chromosomal location : Xq28
  • OMIM: 300126
  • HGNC: 2890
  • UniProtKB: O60832
  • Genatlas: DKC1
  • Ensembl: ENSG00000130826
  • IUPHAR-DB: -
  • Reactome: O60832
  • LOVD: DKC1

Diseases list

  : Assessed

Additional information

Health care resources for this gene

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