NAA16

Chr 13

N-alpha-acetyltransferase 16, NatA auxiliary subunit

Also known as: NARG1L

NCBI Gene: 79612 ENSG00000172766 UniProt: Q6N069

The protein functions as an auxiliary subunit of the N-terminal acetyltransferase A (NatA) complex, which acetylates the N-terminus of newly synthesized proteins in the cytosol. Mutations cause autosomal recessive developmental delay with variable intellectual disability, seizures, and neurological abnormalities. The gene is not highly constrained against loss-of-function variants, consistent with the recessive inheritance pattern observed in affected individuals.

ResearchSummary from RefSeq, UniProt

Enables ribosome binding activity. Involved in protein maturation. Located in cytosol. Part of NatA complex. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.95

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.95LOEUF

pLI 0.000

Z-score 1.80

OE 0.72 (0.55–0.95)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.07Z-score

OE missense 0.99 (0.91–1.07)

427 obs / 431.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.72 (0.55–0.95)

0≤0.351.4

Missense OE?0.99 (0.91–1.07)

0≤0.61.4

Synonymous OE?1.20

0≤1.21.6

LoF obs/exp: 35 / 48.6Missense obs/exp: 427 / 431.2Syn Z: -1.88

Background carrier burden — how many people carry a rare variant somewhere in NAA16?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 82

1,099 rare PASS variants

Rare truncating (LoF)

1 in 680

261 rare PASS variants

Rare synonymous (reference)

1 in 140

400 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for NAA16. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 89	1 in 650
South Asian	~43k	1 in 56	1 in 640
Remaining (unassigned)	~30k	1 in 57	1 in 810
European (Finnish)	~27k	1 in 150	1 in 2,200
Admixed American	~22k	1 in 89	1 in 460
African / African American	~21k	1 in 53	1 in 750
East Asian	~20k	1 in 64	1 in 600
Ashkenazi Jewish	~13k	1 in 560	1 in 680
Middle Eastern	~2,884	1 in 60	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 10 of 20 coding exons well covered in gnomAD exomes; exons 3, 6, 7, 8, 9 and 5 more marginal. Genomes: all 20.? see exons ↓