NTAQ1
Chr 8N-terminal glutamine amidase 1
Also known as: C8orf32, WDYHV1
The NTAQ1 protein mediates deamidation of N-terminal glutamine residues to glutamate, facilitating protein degradation through the N-end rule pathway. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in early infancy with seizures, developmental delay, and dystonic movements. The gene shows minimal constraint against loss-of-function variants (pLI near 0), consistent with recessive inheritance where single functional copies are generally sufficient.
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
NTAQ1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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 →No open access results found
External Resources
Links to major genomics databases and tools