ADSL
Chr 22ARadenylosuccinate lyase
Also known as: AMPS, ASASE, ASL
The encoded protein catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway, converting SAICAR to AICAR and adenylosuccinate to adenosine monophosphate. Autosomal recessive mutations cause adenylosuccinase deficiency, characterized by psychomotor retardation, epilepsy, and autistic features. The pathogenic mechanism involves loss of enzyme function disrupting purine metabolism.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ADSL · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools