ACY1
Chr 3ARaminoacylase 1
Also known as: ACY-1, ACY1D, HEL-S-5
ACY1 encodes aminoacylase-1, a cytosolic zinc-binding enzyme that hydrolyzes N-acetylated and N-formylated amino acids into free amino acids and carboxylates, functioning in amino acid salvage pathways. Biallelic mutations cause aminoacylase-1 deficiency, an autosomal recessive metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with the recessive inheritance pattern.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
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
209 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 5 | 1 | 10 | 0 | 16 |
Likely Pathogenic | 4 | 0 | 1 | 0 | 5 |
VUS | 5 | 87 | 14 | 1 | 107 |
Likely Benign | 1 | 7 | 19 | 30 | 57 |
Benign | 0 | 1 | 9 | 2 | 12 |
Conflicting | — | 11 | |||
| Total | 15 | 96 | 53 | 33 | 208 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ACY1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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