NAA35
Chr 9N-alpha-acetyltransferase 35, NatC auxiliary subunit
Also known as: EGAP, MAK10, MAK10P, bA379P1.1
The protein functions as an auxiliary component of the N-terminal acetyltransferase C (NatC) complex, which acetylates N-terminal methionine residues to protect proteins from degradation and regulates apoptosis and smooth muscle cell proliferation. Pathogenic variants in NAA35 cause autosomal recessive developmental disorders through loss-of-function mechanisms. The gene is highly intolerant to loss-of-function variants, consistent with its essential cellular role.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NAA35 · 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