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KIAA0556 - KIAA0556

  • Synonym(s) : JBTS26, KATNIP
  • Previous symbols and names : _
  • Type : gene with protein product
  • Chromosomal location : 16p12.1
  • OMIM: 616650
  • HGNC: 29068
  • UniProtKB: O60303
  • Genatlas: KIAA0556
  • Ensembl: ENSG00000047578
  • IUPHAR-DB: -
  • Reactome: -
  • LOVD: KIAA0556

Diseases list

  • Disease-causing germline mutation(s) (loss of function) in Joubert syndrome ORPHA:475
  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Health care resources for this gene

Specialised Social Services

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