copper-transport diseases
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Pathways of copper trafficking within a mammalian cell.
The three principle copper chaperones are Cox17, CCS and Atox1. Their respective protein targets are cytochrome c oxidase, SOD1 and the Wilson and Menkes copper transporting ATPases.
The mechanisms regulating initial copper uptake into the cell via the membrane transporter Ctr1 and the subsequent distribution of this metal to each chaperone remain unknown.
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
Madsen E, Gitlin JD. Copper and iron disorders of the brain. Annu Rev Neurosci. 2007;30:317-37. PMID: 17367269
Mercer JF. The molecular basis of copper-transport diseases. Trends Mol Med. 2001 Feb;7(2):64-9. PMID: 11286757