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What is Gene for Wilson's disease is ? and explain in detail?
Ans is 'a' i.e. ATPB7 o Wilson's disease is an autosomal recessive disorder of copper metabolism caused by mutation of ATP7 B gene on the long arm of chromosome 13. ATP7 B gene encodes 'p-type' ATP responsible for copper excretion and incorporation into ceruloplasmin in the liver. The defect in ATP7 B gene results in copper accumulation in the liver (primarily) and other organs like eye and CNS.