NTAN1
Chr 16N-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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools