SPCA1 pumps and Hailey-Hailey disease

Author: Missiaen, L.; Raeymaekers, L.; Dode, L.; Vanoevelen, J.; Van Baelen, K.; Parys, J.B.; Callewaert, G.; De Smedt, H.; Segaert, S.; Wuytack, F.

Description: Both the endoplasmic reticulum and the Golgi apparatus are agonist-sensitive intracellular Ca2+ stores. The Golgi apparatus has Ca2+-release channels and a Ca2+-uptake mechanism consisting of sarco(endo)plasmic-reticulum Ca2+-ATPases (SERCA) and secretory-pathway Ca2+-ATPases (SPCA). SPCA1 has been shown to transport both Ca2+ and Mn2+ in the Golgi lumen and therefore plays an important role in the cytosolic and intra-Golgi Ca2+ and Mn2+ homeostasis. Human genetic studies have provided new information on the physiological role of SPCA1. Loss of one functional copy of the SPCA1 (ATP2C1) gene causes Hailey-Hailey disease, a skin disorder arising in the adult age with recurrent vesicles and erosions in the flexural areas. Here, we review recent experimental evidence showing that the Golgi apparatus plays a much more important role in intracellular ion homeostasis than previously anticipated.

Subject headings: Adult; Animals; Calcium/metabolism; Calcium-Transporting ATPases/genetics/physiology; Female; Golgi Apparatus/enzymology; Humans; Manganese/metabolism; Pemphigus, Benign Familial/enzymology/genetics/pathology

Publication year: 2004

Journal or book title: Biochemical and Biophysical Research Communications

Volume: 322

Issue: 4

Pages: 1204-1213

Find the full text : http://www.sciencedirect.com/science/article/pii/S0006291X04016377

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Type: Journal Article

Serial number: 413