ALDH5A1
Chr 6ARaldehyde dehydrogenase 5 family member A1
Also known as: SSADH, SSDH
This mitochondrial NAD(+)-dependent enzyme catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). Mutations cause succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyricaciduria), a rare autosomal recessive inborn error of GABA metabolism that leads to accumulation of GHB in physiologic fluids. The gene shows very low constraint against loss-of-function variants (pLI near zero), which is consistent with its autosomal 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
ALDH5A1 · 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