ASPA
Chr 17ARaspartoacylase
Also known as: ACY2, ASP
The protein catalyzes the hydrolysis of N-acetyl-L-aspartic acid to aspartate and acetate, which is essential for maintaining white matter in the brain. Mutations cause Canavan disease, an autosomal recessive leukodystrophy. The pathogenic mechanism involves loss of enzyme function leading to toxic accumulation of N-acetyl-L-aspartic acid in the brain.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ASPA · 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
The Myelin Disorders Biorepository Project
RECRUITINGrAAV-Olig001-ASPA Gene Therapy for Treatment of Children With Typical Canavan Disease
ENROLLING BY INVITATIONA Study of AAV9 Gene Therapy in Participants With Canavan Disease (CANaspire Clinical Trial)
RECRUITINGExternal Resources
Links to major genomics databases and tools