Orphanet: aprataxin

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APTX - aprataxin

  • Synonym(s) : AOA, AOA1, EAOH, EOAHA, FLJ20157
  • Previous symbols and names : AXA1, ataxia 1, early onset with hypoalbuminemia
  • Type : gene with protein product
  • Chromosomal location : 9p21.1
  • OMIM: 606350
  • HGNC: 15984
  • UniProtKB: Q7Z2E3
  • Genatlas: APTX
  • Ensembl: ENSG00000137074
  • IUPHAR-DB: -
  • Reactome: Q7Z2E3

Diseases list

  : Assessed

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

Additional information

Health care resources for this gene

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