NUDT15 Chromosome 13
Nudix hydrolase 15
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What This Gene Does
This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
Nudix hydrolase family
Locus Type
gene with protein product
Location
13q14.2
Ensembl
ENSG00000136159
Associated Conditions (6)
Thiopurines
poor metabolism of
2
mercaptopurine response - Dosage
azathioprine response - Toxicity
NUDT15-related disorder
Key Variants
RS116855232
drug response
Thiopurines, poor metabolism of, 2
Drug Response
RS147390019
drug response
Thiopurines, poor metabolism of, 2
Drug Response
RS186364861
Likely benign; drug response
Thiopurines, poor metabolism of, 2
Drug Response
RS746071566
Likely benign; drug response
Thiopurines, poor metabolism of, 2
Drug Response
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116855232 | Drug Response | drug response | Thiopurines, poor metabolism of, 2 |
| RS147390019 | Drug Response | drug response | Thiopurines, poor metabolism of, 2 |
| RS186364861 | Drug Response | Likely benign; drug response | Thiopurines, poor metabolism of, 2 |
| RS746071566 | Drug Response | Likely benign; drug response | Thiopurines, poor metabolism of, 2 |