Orphanet: CLN3 lysosomalendosomal transmembrane protein, battenin

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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
  • Ensembl: ENSG00000188603
  • IUPHAR-DB: -
  • Reactome: -
  • LOVD: CLN3

Diseases list

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

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

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