Mutations in the gene encoding ATP7A results in a severe copper-deficiency known as Menkes disease (Kaler SG 2011).
McEwan, AG, Ong, CL, Walker, MJ, Djoko, KY
Festa, RA, Thiele, DJ
Hodgkinson, V, Petris, MJ
P-type divalent copper transporter activity of ATP7A:PDZD11 [phagocytic vesicle membrane]
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