Gene TPMT

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Also known as

thiopurine S-methyltransferase

Overview

TPMT (Thiopurine S-Methyltransferase) encodes an enzyme that metabolizes thiopurine drugs including azathioprine, mercaptopurine (6-MP), and thioguanine. These medications are used to treat leukemia, autoimmune diseases like Crohn's disease and rheumatoid arthritis, and to prevent organ transplant rejection.

TPMT deficiency is one of the best-established pharmacogenetic associations. Individuals with reduced TPMT activity who receive standard doses of thiopurines can experience severe, life-threatening myelosuppression. Approximately 10% of people have intermediate TPMT activity, while about 0.3% have very low or absent activity and require dramatic dose reductions.

Pre-treatment TPMT genetic testing is recommended before initiating thiopurine therapy. This pharmacogenetic information enables dose individualization to maximize efficacy while minimizing toxicity risk. Understanding your TPMT status can be important if you ever need treatment for leukemia, autoimmune conditions, or organ transplantation.

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