NTAQ1

Chr 8

N-terminal glutamine amidase 1

Also known as: C8orf32, WDYHV1

NCBI Gene: 55093 ENSG00000156795 UniProt: Q96HA8

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.

ResearchSummary from RefSeq, UniProt

Predicted to enable protein-N-terminal glutamine amidohydrolase activity. Predicted to be involved in protein modification process. Predicted to be located in cytoplasm. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…

LOEUF 1.35

Clinical Summary— NTAQ1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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