AGA
Chr 4ARaspartylglucosaminidase
Also known as: AGU, ASRG, GA
This gene encodes aspartylglucosaminidase, a lysosomal enzyme that cleaves asparagine from N-acetylglucosamine residues during the breakdown of asparagine-linked glycoproteins. Mutations cause aspartylglucosaminuria, an autosomal recessive lysosomal storage disorder characterized by progressive neurodegeneration. The gene is not highly constrained against loss-of-function variants (pLI ~0), which is consistent with its recessive inheritance pattern where heterozygous carriers are typically unaffected.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AGA · 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
Evaluate the Safety and Preliminary Efficacy of EXG110 in Subjects With Fabry Disease
RECRUITINGMicrobiome and Malnutrition in Pregnancy
ACTIVE NOT RECRUITINGIndigenous Nutritional Supplements for Pregnancy to Improve Resilience in Environmental Heat
NOT YET RECRUITINGA Phase 1 Study Evaluating the Safety, Tolerability, and Immunogenicity of V4020 Vaccine in Healthy Volunteers
NOT YET RECRUITINGAn Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adults With Fabry Disease
ACTIVE NOT RECRUITINGSafety and Efficacy of scAAV9/AGA Gene Therapy in Participants With Aspartylglucosaminuria (AGU)
NOT YET RECRUITINGStudy of MCLA-129 in the Treatment of Advanced Non-small Cell Lung Cancer with AGA and MET Amplification.
NOT YET RECRUITINGGoat Milk-Derived Formula vs. Undiluted Goat Milk in Infants Unable to Exclusively Breastfeed: Growth and Biomarker Analysis
RECRUITINGPHOENIX: QL1706 Plus Chemotherapy and Bevacizumab in AGA-Resistant, PD-L1 ≥50% Non-Squamous NSCLC
NOT YET RECRUITINGTreatment for Advanced Non-small Cell Lung Cancer With Actionable Genomic Alterations After Targeted Treatment and Chemotherapy (An Expanded Lung-MAP Treatment Trial)
NOT YET RECRUITINGMaternal Probiotic Intervention to Improve Gut Health-Trial II-Pakistan
RECRUITINGExternal Resources
Links to major genomics databases and tools