Darier Disease - A Multi-organ Condition?

Abstract excerpt

Darier disease is a severe, rare autosomal dominant inherited skin condition caused by mutations in the ATP2A2 gene encoding sarcoendoplasmic reticulum Ca2+-ATPase isoform 2 in the endoplasmic reticulum. Since sarcoendoplasmic reticulum Ca2+-ATPase isoform 2 is expressed in most tissues, and intracellular calcium homeostasis is of fundamental importance, it is conceivable that other organs besides the skin may be...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Darier Disease
• Share to Mutation
• Share to Sarcoplasmic Reticulum Calcium-Transporting ATPases