The Copper-Transporting ATpase Defective in Wilson Disease

  • Diane W. Cox
  • John R. Forbes
  • Manoj S. Nanji


Two critical genes have been recognized as essential for the export of copper from cells. The proteins encoded by these genes are very similar, yet perform different functions. Between them, they play a role in controlling copper levels in cells, providing for copper essential for number of enzymes, while preventing the accumulation of toxic levels of copper in cells. The genes for Menkes disease (designated ATP7A)and Wilson disease (designated ATP7B)were cloned in 1993. Their discovery has increased our knowledge of the basic mechanisms of copper transport, and has also made possible practical applications to diagnosis.


Splice Site Mutation Wilson Disease Copper Transport Menkes Disease Cutis Laxa 
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Copyright information

© Springer Science+Business Media New York 1999

Authors and Affiliations

  • Diane W. Cox
    • 1
  • John R. Forbes
    • 1
  • Manoj S. Nanji
    • 1
  1. 1.Department of Medical GeneticsUniversity of AlbertaEdmontonCanada

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