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EPM2A - EPM2A, laforin glucan phosphatase

  • Synonym(s) : LD, LDE
  • Previous symbols and names : epilepsy, progressive myoclonus type 2, Lafora disease (laforin), epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
  • Type : gene with protein product
  • Chromosomal location : 6q24.3
  • OMIM: 607566
  • HGNC: 3413
  • UniProtKB: O95278
  • Genatlas: EPM2A
  • Ensembl: ENSG00000112425
  • IUPHAR-DB: -
  • Reactome: O95278
  • LOVD: EPM2A

Diseases list

  • Disease-causing germline mutation(s) (loss of function) in Lafora disease
  : Assessed

Additional information

Health care resources for this gene

Specialised Social Services

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