Gene: TPMT

Alternate names for this Gene: TPMTD

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.3

Description of this Gene: thiopurine S-methyltransferase

Type of Gene: protein-coding

rs1142345 in TPMT gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 27564568 2017 Genomewide Approach Validates Thiopurine Methyltransferase Activity Is a Monogenic Pharmacogenomic Trait.

PMID 30201983 2018 NT5C2 germline variants alter thiopurine metabolism and are associated with acquired NT5C2 relapse mutations in childhood acute lymphoblastic leukaemia.