DCTPP1

Chr 16

dCTP pyrophosphatase 1

Also known as: CDA03, RS21C6, XTP3TPA

NCBI Gene: 79077 ENSG00000179958 UniProt: Q9H773

dCTP pyrophosphatase hydrolyzes deoxynucleoside triphosphates to monophosphates, with strong preference for dCTP and its analogs, likely protecting against incorporation of genotoxic nucleotide analogs during DNA synthesis. Mutations cause autosomal recessive developmental delay with seizures and intellectual disability. The gene shows moderate constraint against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is dCTP pyrophosphatase, which converts dCTP to dCMP and inorganic pyrophosphate. The encoded protein also displays weak activity against dTTP and dATP, but none against dGTP. This protein may be responsible for eliminating excess dCTP after DNA synthesis and may prevent overmethylation of CpG islands. Three transcript variants, one protein-coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.84

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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