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…

LOFmechanismX-linked/XLD/XLRLOEUF 0.522 OMIM phenotypes

Clinical Summary— NAA10

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Gene-Disease Validity (ClinGen)

NAA10-related syndrome · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.76) — some intolerance to loss-of-function variants.

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ClinVar Variants

28 unique Pathogenic / Likely Pathogenic· 66 VUS of 231 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.52LOEUF

pLI 0.762

Z-score 2.49

OE 0.11 (0.04–0.52)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

2.41Z-score

OE missense 0.33 (0.25–0.44)

33 obs / 101.2 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.11 (0.04–0.52)

0≤0.351.4

Missense OE?0.33 (0.25–0.44)

0≤0.61.4

Synonymous OE?1.06

0≤1.21.6

LoF obs/exp: 1 / 9.1Missense obs/exp: 33 / 101.2Syn Z: -0.31

ClinVar Variant Classifications

231 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8

Likely Pathogenic20

VUS66

Likely Benign49

Benign30

Conflicting16

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	2	6	0	0	8
Likely Pathogenic	1	17	2	0	20
VUS	1	56	9	0	66
Likely Benign	1	4	24	20	49
Benign	0	1	22	7	30
Conflicting	—				16
Total	5	84	57	27	189

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

184 pathogenic / likely-pathogenic (of 201) ClinVar copy-number / structural variants overlap NAA10 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →