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atp7a

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Official Full Name
ATPase, Cu++ transporting, alpha polypeptide
Background
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 cutis laxa, and occipital horn syndrome.
Synonyms
ATP7A; ATPase, Cu++ transporting, alpha polypeptide; Menkes syndrome , MNK; copper-transporting ATPase 1; copper pump 1; Cu++-transporting P-type ATPase; Menkes disease-associated protein; MK; MNK; DSMAX; SMAX3; FLJ17790; cal; wu:fc43e01; zgc:153422; zgc:158633; calamity; Menkes disease ATPase; copper-transporting P-type ATPase; ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)

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