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List of intellectual disability related genes

CLN3 - CLN3 lysosomal/endosomal transmembrane protein, battenin

  • Synonym(s) : BTN1, JNCL, juvenile neuronal ceroid lipofuscinosis
  • Previous symbols and names : BTS, Batten, Spielmeyer-Vogt disease, CLN3, battenin, ceroid-lipofuscinosis, neuronal 3
  • Type : gene with protein product
  • Chromosomal location : 16p12.1
  • OMIM: 607042
  • HGNC: 2074
  • UniProtKB: Q13286
  • Genatlas: CLN3
  • GenCC: CLN3
  • Ensembl: ENSG00000188603
  • IUPHAR-DB: -
  • Reactome: -
  • LOVD: CLN3

Diseases list

  • Disease-causing germline mutation(s) in CLN3 disease ORPHA:228346
  : Assessed

Additional information

Patient-centred resources for this gene

Research activities on this gene

Specialised Social Services

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