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Article

Quantitative relationship between mutated amino-acid sequence of human copper-transporting ATPases and their related diseases.

Molecular diversity - 1 May 2008

Yan Shaomin, Wu Guang

Abstract excerpt

Copper-transporting ATPase 1 and 2 (ATP7A and ATP7B) are two highly homologous P-type copper ATPase exporters. Mutations in ATP7A can lead to Menkes disease which is an X-linked disorder of copper deficiency. Mutations in ATP7B can cause Wilson disease which is an autosomal recessive disorder of...

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Identifiers

PMID: 18688737
DOI: 10.1007/s11030-008-9084-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18688737-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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