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The PEMT gene provides instructions for making an enzyme called phosphatidylethanolamine N-methyltransferase. This enzyme is involved in the synthesis of phosphatidylcholine, a type of phospholipid that is a major component of cell membranes. Phosphatidylcholine plays important roles in maintaining the structure and function of cell membranes, as well as in transporting fats in the body. Mutations in the PEMT gene can cause a rare genetic disorder called PEMT deficiency. This disorder is characterized by abnormal liver function, low levels of certain fats in the blood, and abnormal levels of certain chemicals in the urine. PEMT deficiency can lead to liver disease, including cirrhosis and liver failure. However, the severity of the disorder can vary widely among affected individuals.

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