ALDH4A1
Chr 1ARaldehyde dehydrogenase 4 family member A1
Also known as: ALDH4, P5CD, P5CDh
This mitochondrial enzyme converts pyrroline-5-carboxylate to glutamate in the proline degradation pathway, serving as a critical link between the urea and tricarboxylic acid cycles. Mutations cause autosomal recessive type II hyperprolinemia, characterized by accumulation of pyrroline-5-carboxylate and proline. The gene shows low constraint to loss-of-function variants, 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
Tolerant to missense variation
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
ALDH4A1 · 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