TPMT
Thiopurine S-methyltransferase
Gene Number: 7172
Location: 6p22.3
Key Functions: Thiopurine metabolism, drug detoxification, TPMT enzymatic activity
The TPMT gene, located on chromosome 6p22.3, encodes thiopurine S-methyltransferase, a cytosolic enzyme that plays a pivotal role in the metabolism and detoxification of thiopurine drugs—a class of medications widely used in the treatment of leukemia, autoimmune diseases, and organ transplant rejection. This enzyme catalyzes the S-methylation of thiopurine compounds such as azathioprine, 6-mercaptopurine (6-MP), and thioguanine, converting them into inactive metabolites that are less cytotoxic.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs1800460 | Analyze your DNA to see your genotype | T | Analyze your DNA to see a personalized result. |
rs1800460
CC – Normal TPMT activity; standard metabolizer (R).
TC – Reduced TPMT activity; impaired thiopurine metabolism (R).
TT – Reduced TPMT activity; impaired thiopurine metabolism (R).
Functional effect: The T allele (TPMT3B / part of 3A when combined with rs1142345 C) dramatically reduces enzyme function, increasing the risk of treatment-induced toxicity (R).
Learn more about what you can do to mitigate risks, and other factors involved by becoming a member of GenesUnveiled today!