Wilson's disease
These examples illustrate how impaired regulation of copper transport pathways can cause organ damage and provide important insights into the impact of defects in specific molecular processes, including those catalyzed by the copper-transporting ATPases, ATP7A (mutated in Menkes disease), ATP7B (Wilson's disease), and the copper chaperones such as those for cytochrome c oxidase, SCO1 and SCO2.
These examples illustrate how impaired regulation of copper transport pathways can cause organ damage and provide important insights into the impact of defects in specific molecular processes, including those catalyzed by the copper-transporting ATPases, ATP7A (mutated in Menkes disease), <span class="gene" id="22455587-6-290-295">ATP7B</span> (<span class="disease" id="22455587-6-297-313">Wilson's disease</span>), and the copper chaperones such as those for cytochrome c oxidase, SCO1 and SCO2.