AGA
Chr 4ARaspartylglucosaminidase
Also known as: AGU, ASRG, GA
This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015]
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
This gene — mechanism propensity
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.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
PHOENIX: QL1706 Plus Chemotherapy and Bevacizumab in AGA-Resistant, PD-L1 ≥50% Non-Squamous NSCLC
NOT YET RECRUITINGGoat Milk-Derived Formula vs. Undiluted Goat Milk in Infants Unable to Exclusively Breastfeed: Growth and Biomarker Analysis
RECRUITINGIndigenous Nutritional Supplements for Pregnancy to Improve Resilience in Environmental Heat
NOT YET RECRUITINGMaternal Probiotic Intervention to Improve Gut Health-Trial II-Pakistan
RECRUITINGMicrobiome and Malnutrition in Pregnancy
ACTIVE NOT 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 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 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 RECRUITINGEvaluate the Safety and Preliminary Efficacy of EXG110 in Subjects With Fabry Disease
RECRUITINGClinical Trial of an IL-23 Inhibitor for Immune Activation in Clinical Trial of an IL-23 Inhibitor for Immune Activation in People With Schizophrenia
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools