NTAN1

Chr 16

N-terminal asparagine amidase

Also known as: PNAA, PNAD

This enzyme deamidates N-terminal asparagine residues to aspartate as part of the N-end rule pathway for protein degradation. Mutations cause autosomal recessive intellectual disability with developmental delay, and the gene shows minimal constraint against loss-of-function variants. The condition typically presents in early childhood with global developmental delays affecting multiple neurological functions.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.10
Clinical SummaryNTAN1
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.10LOEUF
pLI 0.000
Z-score 1.25
OE 0.67 (0.421.10)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.40Z-score
OE missense 0.91 (0.791.04)
143 obs / 157.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.67 (0.421.10)
00.351.4
Missense OE0.91 (0.791.04)
00.61.4
Synonymous OE1.07
01.21.6
LoF obs/exp: 11 / 16.5Missense obs/exp: 143 / 157.2Syn Z: -0.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NTAN1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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