NUDT15 nudix hydrolase 15
Gene ID: 55270, updated on 17-Sep-2024Gene type: protein coding
Also known as: MTH2; NUDT15D
- See all available tests in GTR for this gene
- Go to complete Gene record for NUDT15
- Go to Variation Viewer for NUDT15 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Azathioprine response MedGen: CN077959GeneReviews: Not available | not available |
| Mercaptopurine response MedGen: CN077995GeneReviews: Not available | not available |
| Thioguanine response MedGen: CN078017GeneReviews: Not available | not available |
| Thiopurines, poor metabolism of, 2 | not available |
Genomic context
- Location:
- 13q14.2
- Sequence:
- Chromosome: 13; NC_000013.11 (48037726..48052755)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NUDT15 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
- Variation ViewerRelated Variants
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