dyskerin pseudouridine synthase 1

Gene information

• Identity
  HGNC:2890
• Gene
  DKC1
• Long gene name
  dyskerin pseudouridine synthase 1
• Synonyms gene
  • DKC
• Synonyms gene name
  • dyskeratosis congenita 1, dyskerin
• Synonyms
  • XAP101
  • dyskerin
  • NAP57
  • NOLA4
  • Cbf5
• Synonyms name
  • H/ACA ribonucleoprotein complex subunit 4
• GenBank acession
  • AJ224481
• Locus
  Xq28
• Discovery year
  2001-06-22
• Entrez gene record
  1736
• Pubmed identfication
  • 9590285
  • 9888995
• RefSeq identity
  • NM_001363
• Classification
  • Small nucleolar RNA protein coding host genes
  • Pseudouridine synthases
  • MicroRNA protein coding host genes
  • H/ACA ribonucleoprotein complex
• VEGA ID
  OTTHUMG00000024242
• Locus Specific Databases
  • DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome
  • Global Variome shared LOVD
  • LRG_55

Products linked with gene