TPMT
TPMT encodes thiopurine S-methyltransferase, a cytosolic enzyme that inactivates thiopurine drugs (azathioprine, 6-mercaptopurine, thioguanine) by S-methylating them before they can be converted to cytotoxic thioguanine nucleotides. Loss-of-function TPMT variants reduce enzyme activity, causing thiopurine metabolites to accumulate and raising the risk of severe myelosuppression, which is why TPMT genotype/phenotype guides dosing of these drugs in oncology, transplant, and IBD treatment.
Traits TPMT shapes
Reference databases
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