EC Number |
Natural Substrates |
---|
7.2.2.9 | ATP + H2O + Cu+/in |
- |
7.2.2.9 | ATP + H2O + Cu2+/in |
- |
7.2.2.9 | ATP + H2O + Cu2+/in |
Cu-ATPase in the blood-brain barrier controls the penetration of Cu into the brain, lesions to the Cu-ATPase in cerebrovascular endothelial cells are a primary cause of low brain Cu levels in Menkes disease |
7.2.2.9 | ATP + H2O + Cu2+/in |
the copper-induced conformational changes could play an important role in the function and regulation of the ATPase in vivo |
7.2.2.9 | ATP + H2O + Cu2+/in |
ATP7B translocates copper from the cytosol to the late endosomal lumen, thus participating in biliary copper excretion via lysosomes. Disturbed incorporation of copper into the late endosomal lumen from the cytosol by the mutated ATP7B is the main defect of Wilson's disease |
7.2.2.9 | ATP + H2O + Cu2+/in |
enzyme is regulated in response to the change in concentrations of external metals, namely copper and silver, may be involved in copper-homeostasis crucial to the photosynthetic thylakoid function |
7.2.2.9 | ATP + H2O + Cu2+/in |
copper-translocating activity of MNK and its copper-induced relocalization to the plasma membrane represent a well coordiated copper homeostasis system. Mutations in MNK which alter either its catalytic activity or/and ability to traffick can be the cause of Menkes disease |
7.2.2.9 | ATP + H2O + Cu2+/in |
relocalization of the enzyme is a physiological process, which may be mediated by copper levels in the breast or by hormones and other events taking place during lactation |
7.2.2.9 | ATP + H2O + Cu2+/in |
the Wilson disease copper-transporting ATPase plays a critical role in the intracellular trafficking of copper. Mutations in this protein lead to the accumulation of a toxic level of copper in the liver, kidney, and brain followed by extensive tissue damage and death |
7.2.2.9 | ATP + H2O + Cu2+/in |
autosomal recessive Wilson disease is characterized by copper toxicity believed to result from the loss of ability to export copper from liver to bile and incorporate copper into ceruloplasmin in the liver. Mechanism of alternative splicing serves to regulate the amount of functional Wilson disease protein produced in brain, kidney and placenta |