GLUL
Chr 1ADARglutamate-ammonia ligase
Also known as: DEE116, GLNS, GS, PIG43, PIG59
The protein catalyzes the ATP-dependent synthesis of glutamine from glutamate and ammonia, serving critical functions in ammonia detoxification, acid-base homeostasis, and providing glutamine for amino acid, pyrimidine, and purine biosynthesis. Loss-of-function mutations cause congenital glutamine deficiency and developmental and epileptic encephalopathy 116 through both autosomal dominant and autosomal recessive inheritance patterns. The high pLI score (0.996) indicates this gene is highly intolerant to loss-of-function variants, consistent with its essential metabolic role.
Moderate evidence — consider for supplementary testing
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GLUL · 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