Menkes disease |
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| Authors: | I Bertini A Rosato |
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| Institution: | (1) Magnetic Resonance Center (CERM), University of Florence, Via L.Sacconi 6, 50019 Sesto Fiorentino, Italy;(2) Department of Chemistry, University of Florence, Via della Lastruccia 3, 50019 Sesto Fiorentino, Italy |
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| Abstract: | Menkes disease is caused by mutations in the copper-transporting P1B-type ATPase ATP7A. ATP7A has a dual function: it serves to incorporate copper into copper-dependent enzymes, and it maintains
intracellular copper levels by removing excess copper from the cytosol. To accomplish both functions, the protein traffics
between different cellular locations depending on copper levels.The mechanism for sensing the concentration of copper, for
trafficking, as well as the details of the mechanism of copper translocation across the membrane are unknown.
Received 24 September 2007; received after revision 12 October 2007; accepted 17 October 2007 |
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| Keywords: | Menkes disease ATP7A copper trafficking and translocation mutation |
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