AASS
Chr 7ARaminoadipate-semialdehyde synthase
Also known as: LKR/SDH, LKRSDH, LORSDH
This gene encodes a bifunctional enzyme that catalyzes the first two steps in lysine degradation, converting lysine to alpha-aminoadipic semialdehyde through its lysine-ketoglutarate reductase and saccharopine dehydrogenase activities. Mutations cause hyperlysinemia, an autosomal recessive disorder of amino acid metabolism. The gene shows tolerance to loss-of-function variation (pLI near zero), consistent with the recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
AASS · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools