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Article

Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1).

The Journal of biological chemistry - 4 Jul 2003

Fairclough Rebecca J, Dode Leonard, Vanoevelen Jo, Andersen Jens Peter, Missiaen Ludwig, Raeymaekers Luc, Wuytack Frank, Hovnanian Alain

Abstract excerpt

ATP2C1, encoding the human secretory pathway Ca2+/Mn2+ ATPase (hSPCA1), was recently identified as the defective gene in Hailey-Hailey Disease (HHD), an autosomal dominant skin disorder characterized by persistent blisters and erosions. To investigate the underlying cause of HHD, we have analyzed the changes in expression level and function of hSPCA1 caused by mutations found in HHD patients. Mutations were...

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PMID: 12707275
DOI: 10.1074/jbc.M300509200

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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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