Diseases involving the Golgi calcium pump.
Secretory-pathway Ca2(+)-transport ATPases (SPCA) provide the Golgi apparatus with Ca2+ and Mn2+ needed for the normal functioning of this organelle. Loss of one functional copy of the human SPCA1 gene (ATP2C1) causes Hailey-Hailey disease, a rare skin disorder characterized by recurrent blisters and erosions in the flexural areas. Here, we will review the properties and functional role of the SPCAs. The relationship between Hailey-Hailey disease and its defective gene (ATP2C1) will be adressed as well.
Vanoevelen
J
J
Laboratory of Physiology, KULeuven Campus Gasthuisberg O&N1, Herestraat 49 bus 802, B-3000 Leuven, Belgium.
Dode
L
L
Raeymaekers
L
L
Wuytack
F
F
Missiaen
L
L
D017398:Alternative Splicing; D000818:Animals; D002118:Calcium / Q000502:physiology; D020013:Calcium Signaling; D000252:Calcium-Transporting ATPases / Q000235:genetics / Q000502:physiology*; D005260:Female; D006056:Golgi Apparatus / Q000201:enzymology*; D006801:Humans; D008297:Male; D008345:Manganese / Q000502:physiology; D016506:Pemphigus, Benign Familial / Q000235:genetics / Q000503:physiopathology*
D008345:Manganese; C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases; D002118:Calcium