NOVEL CALCIUM TRANSPORTING ATPASE IN KERATINOCYTES

The differentiation of keratinocytes is accompanied by changes in the nature of their adhesive interactions. Hailey Hailey disease (Familial Benign Chronic Pemphigus) is an autosomal dominant skin disease characterized by widespread abnormality in keratinocyte adhesion and consequent blister formation. TUNEL (terminal deoxynucleotidyl transferase-mediated dUTP nick end-labeling) and confocal microscopy reveals apoptidic keratinocytes in regions of dysketatosis and acantholysis.

Researchers at UCSF have identified the gene whose mutations underlie Hailey Hailey disease. This human gene, ATP2C1, encodes a calcium transporting P-type ATPase previously identified in rat and yeast, that is localized to the Golgi, and shown to be required for normal secretory processes. Additional work is underway regarding the role of this gene in pathogenesis.

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Joel Kirschbaum, Ph.D.

Reference: OTM Case #SF1999-101