Orphanet: CLN5 intracellular trafficking protein

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CLN5 - CLN5 intracellular trafficking protein

  • Synonym(s) :
  • Previous symbols and names : CLN5, intracellular trafficking protein, ceroid-lipofuscinosis, neuronal 5
  • Type : gene with protein product
  • Chromosomal location : 13q22.3
  • OMIM: 608102
  • HGNC: 2076
  • UniProtKB: O75503
  • Genatlas: CLN5
  • Ensembl: ENSG00000102805
  • IUPHAR-DB: -
  • Reactome: -
  • LOVD: CLN5

Diseases list

  • Disease-causing germline mutation(s) in CLN5 disease ORPHA:228360
  : Assessed

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

Additional information

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