Author: Missiaen, L.; Dode, L.; Vanoevelen, J.; Raeymaekers, L.; Wuytack, F.
Description: The secretory-pathway Ca2+-ATPases (SPCAs) represent a recently recognized family of phosphorylation-type ATPases that supply the lumen of the Golgi apparatus with Ca2+ and Mn2+ needed for the normal functioning of this structure. Mutations of the human SPCA1 gene (ATP2C1) cause Hailey-Hailey disease, an autosomal dominant skin disorder in which keratinocytes in the suprabasal layer of the epidermis detach. We will first review the physiology of the SPCAs and then discuss how mutated SPCA1 proteins can lead to an epidermal disorder.
Subject headings: Animals; Calcium–metabolism; Calcium-Transporting ATPases–genetics, metabolism; Golgi Apparatus–enzymology, metabolism; Humans; Pemphigus, Benign Familial–enzymology, genetics, pathology
Publication year: 2007
Journal or book title: Cell Calcium
Volume: 41
Issue: 5
Pages: 405-416
Find the full text : https://www.sciencedirect.com/science/article/pii/S0143416006002107
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Type: Journal Article
Serial number: 792