Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.

@article{Blaydon2013MutationsIA,
  title={Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.},
  author={Diana C. Blaydon and Lisbet K Lind and Vincent Plagnol and Kenneth J. Linton and Francis J D Smith and Neil J. Wilson and W H Irwin McLean and Colin S. Munro and Andrew P South and Irene May Leigh and E A O'Toole and Anita Lundstr{\"o}m and David P Kelsell},
  journal={American journal of human genetics},
  year={2013},
  volume={93 2},
  pages={330-5}
}
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 regulation. Immunofluorescence data reveal the presence of AQP5 at the plasma membrane… CONTINUE READING