Search for a gene
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

Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.