AQP5 (aquaporin 5) is a protein-coding gene located on chromosome 12q13.12. The encoded protein is a so-called cell membrane water channel protein, aquaporin 5.
Associated metabolic pathways include aquaporin-mediated transport (water channels) and stabilization and expansion of E-cadherin adherence. An important paralog of this gene is AQP2.
Diseases associated with AQP5 include:
- An autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma (Bothnian-type palmoplantar keratosis) (see below Palmoplantar keratosis aquagene with mutation in AQP5). The mutation in AQP5 results in impaired epidermal water barrier function in the epidermis of the palms and soles.
and
- Sicca syndrome of the eye