In many inherited diseases, proteins are mislocalized in the cell due to errors in targeting signals and transport. One example is “primary hyperoxaluria,” a rare disease, which results in kidney stones already at an early age. A signal in the enzyme alanine:glyoxylate aminotransferase normally directs it to the peroxisome. In patients, this signal is altered and the protein is mislocalized to the mitochondrion where it is unable to perform its normal function.

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MLA style: Diseases. NobelPrize.org. Nobel Media AB 2020. Fri. 30 Oct 2020. <https://www.nobelprize.org/prizes/medicine/1999/7396-diseases/>

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