NAA38
Chr 17N-alpha-acetyltransferase 38, NatC auxiliary subunit
Also known as: LSMD1, MAK31, PFAAP2
The NAA38 protein is an auxiliary component of the N-terminal acetyltransferase C complex that catalyzes acetylation of N-terminal methionine residues, protecting proteins from degradation by the N-end rule pathway. Mutations cause autosomal recessive developmental delays, intellectual disability, and seizures with onset in infancy or early childhood. The gene shows relatively low constraint to loss-of-function variation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
162 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 | 22 | 0 | 22 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 1 | 103 | 13 | 0 | 117 |
Likely Benign | 1 | 3 | 8 | 3 | 15 |
Benign | 0 | 0 | 4 | 0 | 4 |
| Total | 2 | 106 | 47 | 3 | 158 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NAA38 · 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