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copper-transport diseases

 

Classification

-  Menkes disease (copper deficiency)
-  Wilson disease (copper toxicosis)

Etiology

Menkes disease and Wilson disease are two human genetic disorders caused by mutations of two closely related Cu-transporting ATPases. Both molecules efflux copper from cells (Cu-transporting proteins).

References

-  Mercer JF. The molecular basis of copper-transport diseases. Trends Mol Med. 2001 Feb;7(2):64-9. PMID: #11286757#


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