NUDT18

Chr 8

nudix hydrolase 18

Also known as: MTH3

NCBI Gene: 79873 ENSG00000275074 UniProt: Q6ZVK8 OMIM: 615791

The protein hydrolyzes oxidized nucleoside diphosphates, particularly 8-oxo-guanine-containing derivatives, to remove potentially toxic oxidized nucleotide metabolites from DNA and RNA precursor pools. Mutations cause autosomal recessive intellectual disability with developmental delay and seizures, typically presenting in early childhood. The gene shows extreme intolerance to loss-of-function variants, indicating it is highly constrained and essential for normal cellular function.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This protein contains a Nudix hydrolase domain and hydrolyzes oxidized forms of guanosine and deoxyguanosine diphosphates. [provided by RefSeq, Sep 2012]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.62

LOEUF

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Mechanism