NAA50
Chr 3N-alpha-acetyltransferase 50, NatE catalytic subunit
Also known as: MAK3, NAT13, NAT13P, NAT5, NAT5P, SAN, hNaa50p
NAA50 encodes an N-terminal acetyltransferase that acetylates the amino terminus of proteins retaining their initiating methionine and functions as part of the NatA complex, playing a critical role in sister chromatid cohesion during mitosis. The gene is highly constrained against loss-of-function variants (LOEUF 0.545), but specific disease associations and inheritance patterns have not been established from the provided data. Further clinical and genetic studies are needed to define the phenotypic spectrum associated with NAA50 variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NAA50 · 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