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Article

The role of the ATP2C1 gene in Hailey-Hailey disease.

Cellular and molecular life sciences : CMLS - 1 Oct 2017

Deng Hao, Xiao Heng

Abstract excerpt

Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis, characterized by a chronic course of repeated and exacerbated skin lesions in friction regions. The pathogenic gene of HHD was reported to be the ATPase calcium-transporting type 2C member 1 gene (ATP2C1) located on chromosome 3q21-q24. Its function is to maintain normal intracellular concentrations of Ca2+/Mn2+ by transporting...

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Identifiers

PMID: 28551824
DOI: 10.1007/s00018-017-2544-7
PMCID: PMC11107712

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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