GAA
Chr 17ARalpha glucosidase
The encoded lysosomal alpha-glucosidase degrades glycogen to glucose in lysosomes by hydrolyzing alpha-1,4-linked and alpha-1,6-linked glucosidic bonds. Mutations cause Pompe disease, an autosomal recessive glycogen storage disorder that presents as either infantile-onset or late-onset forms. The pathogenic mechanism involves loss of enzyme function leading to pathological glycogen accumulation in lysosomes.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
GAA · 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
A Natural History Study to TRACK Brain and Spinal Cord Changes in Individuals with Friedreich Ataxia (TRACK-FA)
ACTIVE NOT RECRUITINGAtaxia GAA-FGF14 - Descriptive Genetic and Clinical Study
ACTIVE NOT RECRUITINGA Study to Evaluate Safety, Tolerability, and Efficacy of AB-1009 Gene Therapy (GAA Gene) in Adult Participants With Late Onset Pompe Disease (PROGRESS-GT LOPD)
RECRUITINGA Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease
ACTIVE NOT RECRUITINGA Randomized, Parallel-arm, Double Blind, Placebo-controlled Study to Assess the Efficacy of Fampridine for Patients With Spinocerebellar Ataxia SCA27B Caused by a GAA Expansion in the FGF14 Gene
RECRUITINGNatural History of Pompe Disease
RECRUITINGCharacterisation of the Cognitive Profile of Patients Suffering From Friedreich's Ataxia
RECRUITINGClinical and Functional Assessment of Patients With Inherited Non-Duchenne Myopathies in Sohag University Hospital
RECRUITINGEvaluation of the Safety and Efficacy of Late-onset Pompe Disease Gene Therapy Drug
RECRUITINGEvaluation of the Safety and Efficacy of Infantile-onset Pompe Disease Gene Therapy Drug
ACTIVE NOT RECRUITINGA Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)
ACTIVE NOT RECRUITINGTranscriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
RECRUITINGExternal Resources
Links to major genomics databases and tools