ADPRS

Chr 1

ADP-ribosylserine hydrolase

Also known as: ADPRHL2, ARH3, CONDSIAS

NCBI Gene: 54936 ENSG00000116863 UniProt: Q9NX46

The protein is an ADP-ribosylhydrolase that removes ADP-ribose modifications from proteins and degrades free poly(ADP-ribose), playing a key role in DNA damage response and protecting cells from poly(ADP-ribose)-dependent cell death. Mutations cause autosomal recessive neurodegeneration with childhood onset that is stress-induced and features variable ataxia and seizures. The gene shows low constraint to loss-of-function variants (pLI 0.0006, LOEUF 1.03).

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[provided by RefSeq, Feb 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.03

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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