NAA20
Chr 20ARN-alpha-acetyltransferase 20, NatB catalytic subunit
Also known as: MRT73, NAT3, NAT3P, NAT5, NAT5P, dJ1002M8.1
The NAA20 protein is the catalytic subunit of the NatB complex, which acetylates N-terminal methionine residues of specific peptides and is required for maintaining actomyosin fiber structure and cellular migration. Mutations cause autosomal recessive intellectual developmental disorder. The gene shows relatively low constraint to loss-of-function variants (pLI 0.006, LOEUF 1.03), consistent with its recessive inheritance pattern.
Primary Disease Associations & Inheritance
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
53 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 | 1 | 21 | 0 | 22 |
Likely Pathogenic | 0 | 1 | 3 | 0 | 4 |
VUS | 0 | 16 | 4 | 0 | 20 |
Likely Benign | 0 | 0 | 0 | 1 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 18 | 28 | 1 | 47 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NAA20 · 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