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What is Mutation in ATP7B gene is associated with: and explain in detail?
The Wilson's disease gene was identified in 1993 with the identification of ATP7B. This P-type ATPase is involved in copper transpo and is necessary for the expo of copper from the hepatocyte. Thus, in patients with mutations in ATP7B, copper is retained in the liver, leading to increased copper storage and ultimately liver disease as a result. Ref: Harrison's principle of internal medicine 17th edition, chapter 303.