GBE1
Chr 3AR1,4-alpha-glucan branching enzyme 1
Also known as: APBD, GBE, GSD4
The encoded glycogen branching enzyme catalyzes the transfer of alpha-1,4-linked glucosyl units to alpha-1,6 positions on glycogen chains, creating branches that increase glycogen solubility and reduce osmotic pressure in cells. Mutations cause glycogen storage disease IV (Andersen disease) and adult-onset polyglucosan body disease through autosomal recessive inheritance. The pathogenic mechanism involves dominant-negative effects of mutant protein.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GBE1 · 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