Primary Identifier | MGI:2443366 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 214254 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables 8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity. Acts upstream of or within purine deoxyribonucleoside triphosphate catabolic process and response to reactive oxygen species. Predicted to be active in cytosol. Used to study leukopenia; neutropenia; and pancytopenia. Human ortholog(s) of this gene implicated in poor metabolism of thiopurines 2. Orthologous to human NUDT15 (nudix hydrolase 15). PHENOTYPE: Homo- or heterozygosity for the p.R138C mutation results in dose-dependent thiopurine-mediated pancytopenia. [provided by MGI curators] |