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List of intellectual disability related genes

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
  • GenCC: CLN5
  • Ensembl: ENSG00000102805
  • IUPHAR-DB: -
  • Reactome: -
  • LOVD: CLN5

Diseases list

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

Additional information

Patient-centred resources for this gene

Research activities on this gene

Specialised Social Services

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