188 CD44 functions as a novel interacting partner of Aquaporin 5 in keratinocytes

Abstract

Dominant missense mutations in AQP5, encoding the water channel protein Aquaporin 5, underlie diffuse non-epidermolytic palmoplantar keratoderma (NEPPK), a rare skin condition characterized by thickening of the epidermis in palms and soles. Prior to this, AQP5 was only known to be expressed in sweat gland cells in the skin and the role of this water channel in the epidermis remains unclear. To study the role of AQP5 in skin, we have characterized two patient-derived keratinocyte cell lines expressing mutant AQP5Ile45Ser.