Orphanet: palmitoyl protein thioesterase 1

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PPT1 - palmitoyl-protein thioesterase 1

  • Synonym(s) : ceroid-lipofuscinosis, neuronal 1, infantile, CLN1, INCL
  • Previous symbols and names : PPT
  • Type : gene with protein product
  • Chromosomal location : 1p34.2
  • OMIM: 600722
  • HGNC: 9325
  • UniProtKB: P50897
  • Genatlas: PPT1
  • Ensembl: ENSG00000131238
  • IUPHAR-DB: -
  • Reactome: P50897
  • LOVD: PPT1

Diseases list

  • Disease-causing germline mutation(s) in CLN1 disease ORPHA:228329
  : 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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