NAA10
Chr XX-linkedXLDXLRN-alpha-acetyltransferase 10, NatA catalytic subunit
Also known as: ARD1, ARD1A, ARD1P, DXS707, LZMS, MAA, MCOPS1, NATD
The protein functions as the catalytic subunit of the major N-terminal acetyltransferase complex, transferring acetyl groups from acetyl-coenzyme A to the alpha-amino group of nascent polypeptides, a modification essential for normal cell function. Mutations cause Ogden syndrome and syndromic microphthalmia type 1, following X-linked inheritance patterns including dominant and recessive forms. The pathogenic mechanism involves disruption of this critical post-translational modification process affecting protein function.
Definitive — sufficient evidence for diagnostic panels
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
424 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 | 2 | 8 | 171 | 0 | 181 |
Likely Pathogenic | 1 | 17 | 6 | 0 | 24 |
VUS | 1 | 56 | 24 | 0 | 81 |
Likely Benign | 1 | 4 | 24 | 20 | 49 |
Benign | 0 | 1 | 22 | 7 | 30 |
Conflicting | — | 17 | |||
| Total | 5 | 86 | 247 | 27 | 382 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NAA10 · 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