Atp7a - ATPase copper transporting alpha

This gene encodes a transmembrane protein that functions in copper transport across membranes. The protein localizes to the trans-Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. The protein relocalizes to the plasma membrane under conditions of elevated extracellular copper and functions in the efflux of copper from cells. In human, mutations in this gene result in Menkes disease, X-linked cutis laxa, and occipital horn syndrome. [provided by RefSeq, Nov 2009]