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GBA - glucosylceramidase beta
- Synonym(s) : GBA1
- 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
- Ensembl: ENSG00000177628
- IUPHAR-DB: -
- Reactome: P04062
- LOVD: GBA
Diseases list
- Disease-causing germline mutation(s) in Fetal Gaucher disease
- Disease-causing germline mutation(s) in Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- Disease-causing germline mutation(s) in Gaucher disease type 1
- Disease-causing germline mutation(s) in Gaucher disease type 2
- Disease-causing germline mutation(s) in Gaucher disease type 3
- Major susceptibility factor in Hereditary late-onset Parkinson disease
: AssessedAdditional information
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Specialised Social Services
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