ATP7A

(redirected from copper-transporting ATPase 1)

ATP7A

A gene on chromosome Xq21.1 that encodes a transmembrane protein that functions in copper transport across membranes, localising to the trans-Golgi network.

Molecular pathology
ATP7A mutations cause Menkes disease, occipital horn syndrome and X-linked cutis laxa.
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References in periodicals archive ?
Intracellular copper binds to various cytosolic chaperone proteins and then is pumped into the trans-Golgi endoplasmic reticulum via the copper transporter ATP7A (copper-transporting ATPase 1).