Wilson's disease is caused by mutations in a gene located on chromosome 13.
Explanation
Wilson's disease is an autosomal recessive genetic disorder, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. The gene responsible for Wilson's disease is ATP7B. This gene provides instructions for making a protein that is essential for copper transport within the body, specifically in the liver. Mutations in the ATP7B gene disrupt the body's ability to properly regulate copper levels, leading to an accumulation of copper in the liver, brain, and other vital organs.
The ATP7B gene is located on the long arm (q) of chromosome 13 at position 14.3 (13q14.3). This specific location is crucial for genetic mapping and diagnostic testing related to Wilson's disease. Genetic testing can identify mutations in the ATP7B gene, confirming a diagnosis or determining if an individual is a carrier of the disease.
