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Article

An atomic-level investigation of the disease-causing A629P mutant of the Menkes protein, ATP7A.

Journal of molecular biology - 16 Sept 2005

Banci Lucia, Bertini Ivano, Cantini Francesca, Migliardi Manuele, Rosato Antonio, Wang Shenlin

Abstract excerpt

Menkes disease is a fatal disease that can be induced by various mutations in the ATP7A gene, leading to unpaired uptake of dietary copper. The ATP7A gene encodes a copper(I)-translocating ATPase. Here the disease-causing A629P mutation, which occurs in the last of the six copper(I)-binding soluble domains of the ATPase (hereafter MNK6), was investigated. To understand why this apparently minor amino acid...

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Identifiers

PMID: 16083905
DOI: 10.1016/j.jmb.2005.07.034

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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