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List of intellectual disability related genes

MFSD8 - major facilitator superfamily domain containing 8

  • Synonym(s) : MGC33302
  • Previous symbols and names : CLN7, ceroid-lipofuscinosis, neuronal 7, late infantile, variant
  • Type : gene with protein product
  • Chromosomal location : 4q28.2
  • OMIM: 611124
  • HGNC: 28486
  • UniProtKB: Q8NHS3
  • Genatlas: MFSD8
  • GenCC: MFSD8
  • Ensembl: ENSG00000164073
  • IUPHAR-DB: -
  • Reactome: -
  • LOVD: MFSD8

Diseases list

  • Disease-causing germline mutation(s) in CLN7 disease ORPHA:228366
  : Assessed

Additional information

Patient-centred resources for this gene

Research activities on this gene

Specialised Social Services

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