SPCA1 pumps and Hailey-Hailey disease.
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.
Missiaen
Ludwig
L
Laboratorium voor Fysiologie, K.U.Leuven Campus Gasthuisberg, Herestraat 49, B-3000 Leuven, Belgium.
Raeymaekers
Luc
L
Dode
Leonard
L
Vanoevelen
Jo
J
Van Baelen
Kurt
K
Parys
Jan B
JB
Callewaert
Geert
G
De Smedt
Humbert
H
Segaert
Siegfried
S
Wuytack
Frank
F
D000328:Adult; D000818:Animals; D002118:Calcium / Q000378:metabolism; D000252:Calcium-Transporting ATPases / Q000235:genetics / Q000502:physiology*; D005260:Female; D006056:Golgi Apparatus / Q000201:enzymology; D006801:Humans; D008345:Manganese / Q000378:metabolism; D016506:Pemphigus, Benign Familial / Q000201:enzymology* / Q000235:genetics / Q000473:pathology
D008345:Manganese; C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases; D002118:Calcium