GBA1
Chr 1ADMultiARglucosylceramidase beta 1
Also known as: GBA, GCB, GLUC
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide during glycolipid metabolism. Mutations cause Gaucher disease types I, II, III, and IIIC through autosomal recessive inheritance, resulting in accumulation of glucocerebrosides due to deficient enzyme activity. The gene also confers susceptibility to late-onset Parkinson disease and Lewy body dementia through multifactorial and autosomal dominant mechanisms.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
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
GBA1 · 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
Study on the Incidence of Malignant Neoplasms in Patients with Parkinson's Disease and Heterozygous Mutation of the GBA Gene
RECRUITINGMolecular and Functional Imaging in Monogenic PD.
RECRUITINGScreening for Gaucher Disease and Acid Sphingomyelinase Deficiency
NOT YET RECRUITINGPhase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE)
ACTIVE NOT RECRUITINGThe GBA Multimodal Study in Parkinson's Disease
RECRUITINGPhase 1/2a Clinical Trial of PR001 (LY3884961) in Patients With Parkinson's Disease With at Least One GBA1 Mutation (PROPEL)
ACTIVE NOT RECRUITINGEfficacy, Safety, Tolerability, Pharmacodynamics, and Pharmacokinetics of BIA 28-6156 in GBA-PD
ACTIVE NOT RECRUITINGDrug Discovery for Parkinson's With Mutations in the GBA Gene
RECRUITINGNon Motor Symptoms in Glucocerebrosidase-related Parkinson's Disease
ENROLLING BY INVITATIONDetermine the Frequency of Variants in the GBA/PSAP Genes in Patients With MM or MGUS
NOT YET RECRUITINGA Clinical Study Evaluating LY-M001 Injection in the Treatment of Adult Patients With Type I Gaucher Disease
RECRUITINGProdromal Parkinsonian Features in GBA1 Mutation Carriers
RECRUITINGExternal Resources
Links to major genomics databases and tools