ADSS2

Chr 1

adenylosuccinate synthase 2

Also known as: ADEH, ADSS, ADSS 2

NCBI Gene: 159 ENSG00000035687 UniProt: P30520

The protein is adenylosuccinate synthetase, which catalyzes the first committed step in converting inosine monophosphate to adenosine monophosphate in purine nucleotide biosynthesis. Mutations cause autosomal recessive adenylosuccinase deficiency, a disorder affecting the nervous system with developmental delay, intellectual disability, seizures, and autism spectrum features. The gene is moderately constrained against loss-of-function variants (LOEUF 0.454), reflecting the importance of purine metabolism for cellular function.

ResearchSummary from RefSeq, UniProt

This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Nov 2010]

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)

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P/LP submissions

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P/LP missense

0.45

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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