NAT8L
Chr 4ARN-acetyltransferase 8 like
Also known as: CML3, NACED, NAT8-LIKE
This gene encodes the neuron-specific N-acetyltransferase that catalyzes the synthesis of N-acetylaspartate (NAA) from L-aspartate and acetyl-CoA, with NAA serving as a major storage and transport form of acetyl-CoA in the nervous system. Mutations cause N-acetylaspartate deficiency (hypoacetylaspartia) with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.86, LOEUF 0.46), indicating that such mutations are likely to have significant functional consequences.
Primary Disease Associations & Inheritance
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
233 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 | 0 | 0 | 134 | 0 | 134 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 1 | 61 | 13 | 1 | 76 |
Likely Benign | 0 | 3 | 2 | 8 | 13 |
Benign | 0 | 0 | 1 | 2 | 3 |
| Total | 1 | 64 | 156 | 11 | 232 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NAT8L · 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