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Article

Allelic variation in the ATP7B gene promoter. Implications for phenotype variability, neurodegeneration and Pt resistance in tumor diseases.

Journal of human genetics - 1 Jul 2026

Incollu Simona, Asunis Isadora, Satta Stefania, Savasta Salvatore, Loudianos Georgios

Abstract excerpt

Wilson's disease (WD) is a rare genetic disorder of copper transport due to mutations in the ATP7B gene. This results in copper overload and tissue damage that is most evident in the liver and brain. Over 1000 pathogenic mutations have been found in WD patients, and of these, mutations within the ATP7B coding region predominate. In this study, we perform functional analyses of 7 rare sequence variations in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Copper-Transporting ATPases

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Share to Hepatolenticular Degeneration

Share to Promoter Regions, Genetic

Source

Identifiers

PMID: 41844828
DOI: 10.1038/s10038-026-01469-8

Genes

ATP7B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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