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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 l...

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Published in:Cell death & disease 2016-06, Vol.7 (6), p.e2259-e2259
Main Authors: Micaroni, M, Giacchetti, G, Plebani, R, Xiao, G G, Federici, L
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description 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.
doi_str_mv 10.1038/cddis.2016.147
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subjects 38/23
45/43
631/208/2489/144
631/208/737
631/80/313
692/699
82/75
Animals
Antibodies
Biochemistry
Biomedical and Life Sciences
Calcium-Transporting ATPases - chemistry
Calcium-Transporting ATPases - genetics
Calcium-Transporting ATPases - metabolism
Cell Biology
Cell Culture
Cell Membrane - metabolism
Genetics
Humans
Immunology
Isoenzymes - chemistry
Isoenzymes - genetics
Isoenzymes - metabolism
Keratinocytes - enzymology
Life Sciences
Membranes
Mutation
Mutation - genetics
Pemphigus, Benign Familial - enzymology
Pemphigus, Benign Familial - genetics
Protein Transport
Proteins
Review
title ATP2C1 gene mutations in Hailey–Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking
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