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ATP7B is a gene that causes Wilson's Disease. You must inherit two abnormal ATP7B genes, one from your mother and one from your father, to get the disease. If you inherit only one abnormal gene, you will not have the disorder, but will be a carrier of Wilson's Disease.

Wilson's Disease is a rare heredity disease in which copper accumulates in the brain and liver, gradually leading to tremors, muscular rigidity, kidney malfunction, and cognitive disturbances.

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How does Wilson disease affect a human organism?

Errors in the ATP7B gene produce a protein with decreased ability to bind copper. Unused copper is then absorbed back into the bloodstream where it is transported to other organs


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Wilson's disease is caused by a mutation in the ATP7B gene, which is located on chromosome 13. This gene encodes a copper-transporting enzyme involved in copper metabolism. Mutations in this gene lead to impaired copper transport and accumulation of copper in various tissues, causing the symptoms of Wilson's disease.


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