Gene Symbol | NUDT15 |
Entrez Gene ID | 55270 |
Full Name | nudix hydrolase 15 |
Synonyms | MTH2,NUDT15D |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | {Thiopurines, poor metabolism of, 2}, 616903 (3) |