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TPMT is the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals, causing thiopurine S-methyltransferase deficiency. Related pseudogenes have been identified on chromosomes 3, 18 and X.
Gene Name: | thiopurine S-methyltransferase |
Synonyms: | TPMT, Thiopurine S-methyltransferase, Thiopurine methyltransferase |
Target Sequences: | NM_000367 NP_000358.1 P51580 |
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