Orphanet: frataxin
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List of intellectual disability related genes

FXN - frataxin

  • Synonym(s) : CyaY, FA, FARR, X25
  • Previous symbols and names : FRDA, Friedreich ataxia
  • Type : gene with protein product
  • Chromosomal location : 9q21.11
  • OMIM: 606829
  • HGNC: 3951
  • UniProtKB: Q16595
  • Genatlas: FXN
  • GenCC: FXN
  • Ensembl: ENSG00000165060
  • IUPHAR-DB: -
  • Reactome: Q16595
  • LOVD: FXN

Diseases list

  • Disease-causing germline mutation(s) (loss of function) in Friedreich ataxia ORPHA:95
  : Assessed

Additional information

Patient-centred resources for this gene

Research activities on this gene

Specialised Social Services

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