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GBA - glucosylceramidase beta
- Synonym(s) : GBA1, glucocerebrosidase
- Previous symbols and names : GLUC, glucosidase, beta, acid, glucosidase, beta; acid (includes glucosylceramidase), glucosylceramidase
- Type : gene with protein product
- Chromosomal location : 1q22
- OMIM: 606463
- HGNC: 4177
- UniProtKB: P04062
- Genatlas: GBA
- GenCC: GBA
- Ensembl: ENSG00000177628
- IUPHAR-DB: 2978
- Reactome: P04062
- LOVD: GBA
Diseases list
- Disease-causing germline mutation(s) in Fetal Gaucher disease
ORPHA:85212 
- Disease-causing germline mutation(s) in Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
ORPHA:2072 - Disease-causing germline mutation(s) in Gaucher disease type 1
ORPHA:77259 - Disease-causing germline mutation(s) in Gaucher disease type 2
ORPHA:77260 - Disease-causing germline mutation(s) in Gaucher disease type 3
ORPHA:77261 - Major susceptibility factor in Hereditary late-onset Parkinson disease
ORPHA:411602 - Major susceptibility factor in NON RARE IN EUROPE: Dementia with Lewy body
ORPHA:1648 - Major susceptibility factor in NON RARE IN EUROPE: Parkinson disease
ORPHA:319705
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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