ATP7A Polyclonal Antibody

This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed.

ATP 7A; ATP7A; ATP7A; ATPase copper transporting alpha polypeptide; ATPase Cu++ transporting alpha polypeptide (Menkes syndrome) ; ATPase Cu++ transporting alpha polypeptide; Copper pump 1; Copper transporting ATPase 1; Copper-transporting ATPase 1; Cu++ transporting P type ATPase; DSMAX; FLJ17790; MC 1; MC1; Menkes disease associated protein; Menkes disease-associated protein; Menkes syndrome; MK; MNK; OHS; OTTHUMP00000062077; SMAX3