Orphanet: NHL repeat containing E3 ubiquitin protein ligase 1
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NHLRC1 - NHL repeat containing E3 ubiquitin protein ligase 1

  • Synonym(s) : bA204B7.2, epilepsy, progressive myoclonus type 2B, EPM2B, malin
  • Previous symbols and names : NHL repeat containing 1
  • Type : gene with protein product
  • Chromosomal location : 6p22.3
  • OMIM: 608072
  • HGNC: 21576
  • UniProtKB: Q6VVB1
  • Genatlas: NHLRC1
  • Ensembl: ENSG00000187566
  • IUPHAR-DB: -
  • Reactome: Q6VVB1
  • LOVD: NHLRC1

Diseases list

  • Disease-causing germline mutation(s) (loss of function) in Lafora disease ORPHA:501
  : 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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