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Gene

NUDT15

NUDT15 encodes a nudix hydrolase enzyme that inactivates thiopurine metabolites by hydrolyzing thio-dGTP and thio-GTP before they can be incorporated into DNA and RNA. Loss-of-function NUDT15 variants reduce this detoxification capacity, causing excessive accumulation of active thiopurine nucleotides and markedly increased risk of severe myelosuppression in patients treated with thiopurine drugs such as azathioprine, mercaptopurine, and thioguanine.

Traits NUDT15 shapes

Reference databases

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