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References 1.Krger C, Schallreuter KU

In 1993, it was discovered that Wilsons disease was caused by a mutation in the ATP7B gene, on chromosome 13, which resulted in absent or reduced function of a copperchaperone protein, ATP7B.14 ATP7B is a metal-transporting P-type ATPase, located on the trans-Golgi complex of the hepatocyte.15 The ATP7B protein is necessary for transport of copper into vesicles that form lysosomes for excretion into the bile