NUDT5

Chr 10

nudix hydrolase 5

Also known as: YSA1, YSA1H, YSAH1, hNUDT5

NCBI Gene: 11164 ENSG00000165609 UniProt: Q9UKK9

The protein functions as an ADP-sugar pyrophosphatase that hydrolyzes modified nucleoside diphosphates including ADP-ribose and oxidized nucleotides, and can synthesize nuclear ATP required for chromatin remodeling. Mutations cause autosomal recessive intellectual disability with seizures and brain malformations, typically presenting in infancy or early childhood. The gene shows tolerance to loss-of-function variants based on population genetics data.

ResearchSummary from RefSeq, UniProt

This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (ADPR) and 8-oxoGua-containing 8-oxo-dADP and 8-oxo-dGDP. Protein-bound ADP ribose can be hazardous to the cell because it can modify some amino acid residues, resulting in the inhibition of ATP-activated potassium channels. 8-oxoGua is an oxidized form of guanine that can potentially alter genetic information by pairing with adenine and cytosine in RNA. Presence of 8-oxoGua in RNA results in formation of abnormal proteins due to translational errors. [provided by RefSeq, Aug 2013]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.88

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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