Abstract
The identification of genes defective in Menkes disease and in Wilson disease has provided a major breakthrough in our understanding of copper transport. A membrane transport protein is a key factor in the control of intracellular copper concentration. In addition to the high degree of identity between the genes for Menkes and Wilson diseases, a high degree of homology is shown with other metal transporting ATPases, first in bacteria (1) and more recently in yeast (2). The bacterial genes are generally present on plasmids, and replicate in the presence of high metal concentration in the surrounding environment, as provided by pollution, fungicides, or any other situation in which the metal content of the environment is increased. A particularly high degree of homology is seen with those bacteria which are resistant to either copper or cadmium, because of their efficiency in transporting these metals from the cell. A high level of amino acid identity is seen in the functionally important regions.
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Cox, D.W. (1996). The Copper-Transporting ATPases Defective in Menkes Disease and Wilson Disease. In: Nève, J., Chappuis, P., Lamand, M. (eds) Therapeutic Uses of Trace Elements. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-0167-5_72
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