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Article

Menkes disease.

Cellular and molecular life sciences : CMLS - 1 Jan 2008

Bertini I, Rosato A

Abstract excerpt

Menkes disease is caused by mutations in the copper-transporting P(1B)-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...

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Identifiers

PMID: 17989919
DOI: 10.1007/s00018-007-7439-6
PMCID: PMC11131655

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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