GLB1
Chr 3ARgalactosidase beta 1
The protein is a lysosomal enzyme that catalyzes the hydrolysis of terminal beta-linked galactose residues from ganglioside substrates and other glycoconjugates. Mutations cause autosomal recessive GM1-gangliosidosis (types I, II, and III) and Morquio B syndrome (mucopolysaccharidosis type IVB) through loss of function. The predicted mechanism of pathogenicity is dominant negative.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
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
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
GLB1 · 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
Prenatal Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis Clinical Trial
NOT YET RECRUITINGPrecision Microbiota Interventions for Senoreduction Trial
NOT YET RECRUITINGStudy of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis
ACTIVE NOT RECRUITINGMilk for Diabetes Prevention
RECRUITINGSupplementation With Sirtuin Activators in Women With Increased Body Weight
RECRUITINGA Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis
RECRUITINGExternal Resources
Links to major genomics databases and tools