A significantly higher frequency of Wilson disease in East Asian populations than that in other populations, it is ranging from 1:30,000 to 1:50,000.[4] The disorder is caused by mutations in the ATP7B gene, encoding a P-type copper transporting adenosine triphosphatase localized on chromosome 13 at 13q14.3.[4] The identification of mutations in the ATP7B gene is one of the useful tools for diagnosis and treatment orientation for patients with Wilson disease. The gene discussed is ATP7B; the disease is Wilson disease.