A Comparative Study of Water Permeability Between Aquaporin 5 Wild Type and Mutant Proteins Causing Palmoplantar Keratoderma
Multiple missense mutations in the tetrameric transmembrane protein human aquaporin 5 (HsAQP5), which is a member of the water conducting aquaporin superfamily, is reported to cause nonepidermolytic palmoplantar keratoderma (NEPPK), which is a diffuse and autosomal-dominant skin disease. A white appearance and spongy texture of the skin arise after exposure to water which is thought to be caused b