The discovery of Wilson and Menkes disease genes and their respective copper-transporting ATPases ushered in a new era in the studies of copper transport mechanism. It has opened the door for in-depth studies of copper-transport to determine the specific role played by these proteins in the homeostatic control of cellular copper. The knowledge of the intracellular localization of transporter proteins and the understanding of their functions will be key to our understanding of how the defective ATPase gene interferes with the normal transport of copper. The role played by copper chaperone and regulatory protein partners in the functioning of copper-transporting ATPases has added yet another piece to the copper-transport puzzle. Future research will be critically important for developing a broader understanding of normal copper transport and pathophysiology of Wilson and Menkes diseases and other genetic copper toxicosis disorders.
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