PRUNE1
Chr 1ARprune exopolyphosphatase 1
Also known as: DRES-17, DRES17, H-PRUNE, HTCD37, NMIHBA, PRUNE
The protein functions as a phosphodiesterase with higher activity toward cAMP than cGMP and regulates neurogenesis and microtubule polymerization. Mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.661), consistent with its role in early neurodevelopment.
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
PRUNE1 · 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