Article
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
American journal of human genetics - 8 Aug 2013
Blaydon Diana C, Lind Lisbet K, Plagnol Vincent, Linton Kenneth J, Smith Francis J D, Wilson Neil J, McLean W H Irwin, Munro Colin S, South Andrew P, Leigh Irene M, O'Toole Edel A, Lundström Anita, Kelsell David P
Abstract excerpt
Autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma is characterized by the adoption of a white, spongy appearance of affected areas upon exposure to water. After exome sequencing, missense mutations were identified in AQP5, encoding water-channel protein aquaporin-5 (AQP5). Protein-structure analysis indicates that these AQP5 variants have the potential to elicit an effect on normal channel...
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