ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking.
ATP2C1 gene codes for the secretory pathway Ca(2+)/Mn(2+)-ATPase pump type 1 (SPCA1) localizing at the golgi apparatus. Mutations on the human ATP2C1 gene, causing decreased levels of the SPCA1 expression, have been identified as the cause of the Hailey-Hailey 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 ATP2C1 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.
School of Pharmaceutical Science and Technology, Dalian University of Technology, Dalian 116024, China.
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Micaroni
Aging Research Center (Ce.S.I.), University 'G. D'Annunzio' of Chieti-Pescara, Chieti 66100, Italy.|Department of Neuroscience, Imaging and Clinical Sciences, University 'G. D'Annunzio' of Chieti-Pescara, Chieti 66100, Italy.
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Giacchetti
Aging Research Center (Ce.S.I.), University 'G. D'Annunzio' of Chieti-Pescara, Chieti 66100, Italy.|Department of Medical Oral and Biotechnological Sciences, School of Medicine and Health Sciences, University 'G. D'Annunzio' of Chieti-Pescara, Chieti 66100, Italy.
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Plebani
School of Pharmaceutical Science and Technology, Dalian University of Technology, Dalian 116024, China.
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Xiao
Aging Research Center (Ce.S.I.), University 'G. D'Annunzio' of Chieti-Pescara, Chieti 66100, Italy.|Department of Medical Oral and Biotechnological Sciences, School of Medicine and Health Sciences, University 'G. D'Annunzio' of Chieti-Pescara, Chieti 66100, Italy.
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Federici
D000818:Animals; D000252:Calcium-Transporting ATPases / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D002462:Cell Membrane / Q000378:metabolism*; D006801:Humans; D007527:Isoenzymes / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D015603:Keratinocytes / Q000201:enzymology; D009154:Mutation / Q000235:genetics*; D016506:Pemphigus, Benign Familial / Q000201:enzymology* / Q000235:genetics*; D021381:Protein Transport
D007527:Isoenzymes; C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases