| Entrez gene ID | | 4521 |
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| Official gene symbol | | NUDT1 |
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| Full name | | nudix (nucleoside diphosphate linked moiety X)-type motif 1 |
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| Aliases | | ,MTH1, |
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| Gene summary | | Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq] |
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| Location | | Chromosome: 7 Locus: 7p22 |
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| Gene position | | 2281857 - 2290780 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 8924 bp |
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| Gene sequence |
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| OMIM ID | | 600312 |
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