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Mutations on the human<jats:italic>ATP2C1<\/jats:italic>gene, causing decreased levels of the SPCA1 expression, have been identified as the cause of the Hailey\u2013Hailey disease, a rare skin disorder. In the last few years, several mutations have been described, and here we summarize how they are distributed along the gene and how missense mutations affect protein expression. SPCA1 is expressed in four different isoforms through alternative splicing of the<jats:italic>ATP2C1<\/jats:italic>gene and none of these isoforms is differentially affected by any of these mutations. However, a better understanding of the tissue specific expression of the isoforms, their localization along the secretory pathway, their specific binding partners and the role of the C-terminal tail making isoforms different from each other, will be future goals of the research in this field.<\/jats:p>","DOI":"10.1038\/cddis.2016.147","type":"journal-article","created":{"date-parts":[[2016,6,9]],"date-time":"2016-06-09T13:39:29Z","timestamp":1465479569000},"page":"e2259-e2259","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":57,"title":["ATP2C1 gene mutations in Hailey\u2013Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking"],"prefix":"10.1038","volume":"7","author":[{"given":"M","family":"Micaroni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Giacchetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Plebani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G G","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Federici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,6,9]]},"reference":[{"key":"BFcddis2016147_CR1","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1038\/nrm2378","volume":"9","author":"MA De Matteis","year":"2008","unstructured":"De Matteis MA, Luini A . 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