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ATP7B - ATPase copper transporting beta

  • Synonym(s) : copper pump 2, copper-transporting ATPase 2, Wilson disease
  • Previous symbols and names : ATPase, Cu++ transporting, beta polypeptide, ATPase, Cu++ transporting, beta polypeptide (Wilson disease), WND
  • Type : gene with protein product
  • Chromosomal location : 13q14.3
  • OMIM: 606882
  • HGNC: 870
  • UniProtKB: P35670
  • Genatlas: ATP7B
  • Ensembl: ENSG00000123191
  • IUPHAR-DB: -
  • Reactome: P35670
  • LOVD: ATP7B

Diseases list

  • Disease-causing germline mutation(s) (loss of function) in Wilson disease
  : Assessed

Additional information

Health care resources for this gene

Specialised Social Services

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