PYCR2
Chr 1ARpyrroline-5-carboxylate reductase 2
Also known as: HLD10, P5CR2
The mitochondrial protein PYCR2 catalyzes the final step in proline biosynthesis by reducing pyrroline-5-carboxylate to L-proline using NADH, and is involved in cellular response to oxidative stress. Mutations cause hypomyelinating leukodystrophy 10, inherited in an autosomal recessive pattern. The gene shows tolerance to loss-of-function variants (low pLI, elevated LOEUF), consistent with recessive inheritance where heterozygous carriers are typically unaffected.
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
PYCR2 · 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