NAA50

Chr 3

N-alpha-acetyltransferase 50, NatE catalytic subunit

Also known as: MAK3, NAT13, NAT13P, NAT5, NAT5P, SAN, hNaa50p

NCBI Gene: 80218 ENSG00000121579 UniProt: Q9GZZ1 OMIM: 610834

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.

OMIM ResearchSummary from RefSeq, UniProt

Enables histone H4 acetyltransferase activity and protein-N-terminal amino-acid acetyltransferase activity. Involved in N-terminal protein amino acid acetylation; establishment of mitotic sister chromatid cohesion; and mitotic sister chromatid cohesion, centromeric. Located in cytosol and nucleolus. Part of NatA complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 0.55

Clinical Summary— NAA50

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.73) — some intolerance to loss-of-function variants.

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