Orphanet: CLN6 transmembrane ER protein

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CLN6 - CLN6 transmembrane ER protein

  • Synonym(s) : FLJ20561, HsT18960, nclf
  • Previous symbols and names : CLN6, transmembrane ER protein, ceroid-lipofuscinosis, neuronal 6, late infantile, variant
  • Type : gene with protein product
  • Chromosomal location : 15q23
  • OMIM: 606725
  • HGNC: 2077
  • UniProtKB: Q9NWW5
  • Genatlas: CLN6
  • Ensembl: ENSG00000128973
  • IUPHAR-DB: -
  • Reactome: Q9NWW5
  • LOVD: CLN6

Diseases list

  • Disease-causing germline mutation(s) in CLN4A disease ORPHA:228340
  • Disease-causing germline mutation(s) in CLN6 disease ORPHA:228363
  : 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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