NUDT1

Chr 7

nudix hydrolase 1

Also known as: MTH1

NCBI Gene: 4521 ENSG00000106268 UniProt: P36639

The protein hydrolyzes oxidized purine nucleoside triphosphates to prevent their incorporation into DNA and RNA, thereby protecting cells from oxidative damage and mutagenic transversions. Mutations cause autosomal recessive developmental delay, intellectual disability, seizures, and movement disorders with early childhood onset. This gene is not highly constrained against loss-of-function variation and has an associated GeneReviews entry for detailed clinical guidance.

ResearchSummary from RefSeq, UniProt

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 rare single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Dec 2018]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.94

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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