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Synonyms: HGNC:12014,S adenosyl L methionine thiopurine S methyltransferase,Thiopurine methyltransferase,Thiopurine S methyltransferase,Thiopurine S-methyltransferase,TPMT,TPMT
Background: This gene encodes 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.