TPMT thiopurine S-methyltransferase
Gene ID: 7172, updated on 20-Apr-2024Gene type: protein coding
Also known as: TPMTD
- See all available tests in GTR for this gene
- Go to complete Gene record for TPMT
- Go to Variation Viewer for TPMT variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Azathioprine response MedGen: CN077959GeneReviews: Not available | See labs |
| Mercaptopurine response MedGen: CN077995GeneReviews: Not available | See labs |
| Thioguanine response MedGen: CN078017GeneReviews: Not available | See labs |
| Thiopurine S-methyltransferase deficiency | See labs |
Genomic context
- Location:
- 6p22.3
- Sequence:
- Chromosome: 6; NC_000006.12 (18128311..18155169, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TPMT variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TPMT database
- Variation ViewerRelated Variants
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