TPMT, Official Symbol TPMTprovided by HGNC Official Full Name thiopurine S-methyltransferaseprovided by HGNC Primary source HGNC:HGNC:12014 See related Ensembl:ENSG00000137364 MIM:187680; AllianceGenome:HGNC:12014 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TPMTD 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. [provided by RefSeq, Aug 2014] Expression Broad expression in thyroid (RPKM 38.6), kidney (RPKM 27.8) and 24 other tissues See more Orthologs mouse all