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Schematic representation of the reported ATP2C1 gene mutations in Hailey–Hailey disease. SPCA1 consists of ten transmembrane domains, a phosphorylation domain, a calcium binding site, and a magnesium binding site. All ATP2C1 mutations are described according to the ATP2C1 isoform 1a (NM_014382.3, NP_055197.2). The exon 27 of the ATP2C1 gene is not drawn to scale (as indicated by dashed lines)
