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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NUDT15
nudix hydrolase 15
Chromosome 13 · 13q14.2
NCBI Gene: 55270Ensembl: ENSG00000136159.5HGNC: HGNC:23063UniProt: Q9NV35
102PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA protectionprotein binding8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activityDecreased total leukocyte countalopeciadisease of peritoneumpreeclampsia
✦AI Summary

NUDT15 encodes a nudix hydrolase that catalyzes hydrolysis of nucleoside triphosphates including dGTP, dTTP, dCTP, and their oxidized forms like 8-oxo-dGTP 1. Critically, NUDT15 hydrolyzes thiopurine derivatives including 6-thio-dGTP and 6-thio-GTP, participating in thiopurine drug catabolism 12. The enzyme may also regulate cellular isoprenoid metabolism by hydrolyzing isoprene pyrophosphates 3 and stabilize PCNA to support DNA synthesis and cell cycle progression 4. Loss-of-function NUDT15 variants are common in Asian and Hispanic populations and significantly impair thiopurine inactivation 5. This reduces degradation of active thiopurine nucleotide metabolites, increasing their incorporation into DNA and predisposing patients to myelosuppression 67. The c.415C>T variant shows strong association with thiopurine-induced leukopenia and neutropenia in acute lymphoblastic leukemia (ALL) patients, with 9-fold increased leukopenia risk and substantially reduced tolerable 6-mercaptopurine doses 89. Clinically, NUDT15 genotyping is recommended alongside TPMT testing to guide thiopurine dosing in ALL maintenance therapy 5. Patients with compound intermediate metabolizer status (TPMT/NUDT15 IM/IM) require more substantial dose reductions to mitigate toxicity 6.

Sources cited
1
NUDT15 catalyzes hydrolysis of nucleoside triphosphates (dGTP, dTTP, dCTP, oxidized forms, thiopurine derivatives)
PMID: 26238318
2
NUDT15 participates in thiopurine drug catabolism through thioguanosine triphosphate hydrolysis
PMID: 25108385
3
NUDT15 catalyzes hydrolysis of isoprene pyrophosphates in vitro, potentially regulating isoprenoid metabolism
PMID: 38944687
4
NUDT15 may stabilize PCNA to support DNA synthesis and cell cycle progression
PMID: 19419956
5
Loss-of-function NUDT15 alleles are common in Asians and Hispanics and reduce degradation of active thiopurine metabolites, predisposing to myelosuppression
PMID: 30447069
6
Compound TPMT/NUDT15 intermediate metabolizers require substantial dose reductions in mercaptopurine therapy
PMID: 38230823
7
NUDT15 loss-of-function variants decrease thioguanine nucleotides available for DNA incorporation
PMID: 35654820
8
NUDT15 c.415C>T variant associates with 9-fold higher leukopenia risk and 49-50% dose reductions in ALL patients
PMID: 37794799
9
NUDT15 gene variants (rs116855232, rs186364861, rs554405994) are clinically relevant predictors of thiopurine-induced leukopenia
PMID: 30048756
Disease Associationsⓘ20
Decreased total leukocyte countOpen Targets
0.43Moderate
alopeciaOpen Targets
0.33Weak
disease of peritoneumOpen Targets
0.13Weak
preeclampsiaOpen Targets
0.12Weak
brain aneurysmOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
acute lymphoblastic leukemiaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
Blackfan-Diamond anemiaOpen Targets
0.07Suggestive
autosomal recessive severe congenital neutropenia due to CSF3R deficiencyOpen Targets
0.06Suggestive
COVID-19Open Targets
0.06Suggestive
inflammatory bowel diseaseOpen Targets
0.06Suggestive
amegakaryocytic thrombocytopenia, congenital, 2Open Targets
0.06Suggestive
acute erythroleukemiaOpen Targets
0.06Suggestive
congenital amegakaryocytic thrombocytopenia 1Open Targets
0.06Suggestive
neutropenia, severe congenital, 10, autosomal recessiveOpen Targets
0.06Suggestive
monosomy 7 myelodysplasia and leukemia syndrome 2Open Targets
0.06Suggestive
neutropeniaOpen Targets
0.05Suggestive
X-linked severe congenital neutropeniaOpen Targets
0.05Suggestive
X-linked sideroblastic anemia 1Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NAPRTProtein interaction93%ITPAProtein interaction92%FPGSProtein interaction89%GCH1Protein interaction89%MROH6Protein interaction86%RRM1Protein interaction83%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
73%
Liver
58%
Brain
53%
Lung
43%
Ovary
42%
Gene Interaction Network
Click a node to explore
NUDT15NAPRTITPAFPGSGCH1MROH6RRM1
PROTEIN STRUCTURE
Preparing viewer…
PDB7B67 · 1.45 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.36LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.59–1.36]
RankingsWhere NUDT15 stands among ~20K protein-coding genes
  • #4,684of 20,598
    Most Researched102 · top quartile
  • #14,233of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedNUDT15
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Clinical Pharmacogenetics Implementation Consortium Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2018 Update.
PMID: 30447069
Clin Pharmacol Ther · 2019
1.00
2
Additive effects of TPMT and NUDT15 on thiopurine toxicity in children with acute lymphoblastic leukemia across multiethnic populations.
PMID: 38230823
J Natl Cancer Inst · 2024
0.90
3
Maintenance therapy for acute lymphoblastic leukemia: basic science and clinical translations.
PMID: 35654820
Leukemia · 2022
0.80
4
DPYD Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, American College of Medical Genetics and Genomics, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, Pharmacogenomics Knowledgebase, and Pharmacogene Variation Consortium.
PMID: 39032821
J Mol Diagn · 2024
0.70
5
Recommendations for pharmacogenetic testing in clinical practice guidelines in the US.
PMID: 38652504
Am J Health Syst Pharm · 2024
0.60