Wilson disease P-type ATPase

The highly homologous Wilson disease P-type ATPase (ATP7b) and the Menkes s P-type ATPase (ATP7a) differ only in their tissue expression and both function to move copper from one intracellular compartment to another. The ATP7a is predominantly located in the placenta, blood-brain barrier, and gastrointestinal tract and hence any mutation in the Menkes s P-type ATPase results in a copper deficiency in the fetus, brain, and tissues. In contrast, the Wilson s disease P-type ATPase is expressed in the liver and mutations in this culminate in profound copper overload of the liver because of the inability to shuttle copper into the trans golgi network for incorporation into ceruloplasmin. The excess copper is stored in the liver and eventually leaks out in the serum where it is deposited within sensitive tissues the eye and brain. The psychiatric... 

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