ATP7A (also known as Copper-transporting ATPase 1) functions as a transmembrane copper-translocating P-type ATPase and plays a vital role in systemic copper absorption in the gut and copper reabsorption in the kidney.
Polarized epithelial cells such as Madin-Darby canine kidney cells are a physiologically relevant model for systemic copper absorption and reabsorption in vivo.
Although ATP7A is not detectable in most normal tissues, it is expressed in a considerable fraction of many common tumor types. Increased expression of ATP7A renders cells resistant to cisplatin and carboplatin. Mutations in the ATP7A gene result in Menkes disease, which is fatal in early childhood.
