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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Detalles Bibliográficos
Autores principales: Micaroni, M, Giacchetti, G, Plebani, R, Xiao, G G, Federici, L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5143377/
https://www.ncbi.nlm.nih.gov/pubmed/27277681
http://dx.doi.org/10.1038/cddis.2016.147

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5143377/
https://www.ncbi.nlm.nih.gov/pubmed/27277681
http://dx.doi.org/10.1038/cddis.2016.147

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