NAA10

Chr XX-linkedXLDXLR

N-alpha-acetyltransferase 10, NatA catalytic subunit

Also known as: ARD1, ARD1A, ARD1P, DXS707, LZMS, MAA, MCOPS1, NATD

NCBI Gene: 8260 ENSG00000102030 UniProt: P41227 OMIM: 300013

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes an N-terminal acetyltransferase that functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex. Mutations in this gene are the cause of Ogden syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Microphthalmia, syndromic 1MIM #309800

X-linked

Ogden syndromeMIM #300855

XLDXLR

UniProtN-terminal acetyltransferase deficiency

Clinical highlights

Gene-disease validity (ClinGen)

NAA10-related syndrome · XLDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.52

LOEUF

LOF

Mechanism· G2P