| Gene Symbol | GBAPROTEIN |
| Full Name | Glucocerebrosidase (GCase) |
| Protein Type | Protein |
| Function | is a lysosomal enzyme encoded by the GBA gene that catalyzes the hydrolysis of glucosylceramide to glucose and ceramide [@brumshtein2006]. |
| UniProt ID | Search UniProt |
| GeneCards | GBAPROTEIN |
| Human Protein Atlas | GBAPROTEIN |
| Signal peptide | Directs secretion and lysosomal targeting [@jonsson1987] |
| Catalytic domain | Beta-glucosidase active site [@dvir2003] |
| Three N-linked glycosylation sites | Required for proper folding and trafficking [@bergmann1989] |
| Carbohydrate recognition domain | Binds glucosylceramide substrate [@terlecky1995] |
| Substrate | Glucosylceramide (GlcCer) → Glucose + Ceramide [@lehman1969] |
| Optimal pH | pH 4.5-5.0 (lysosomal environment) [@aerts1986] |
| Cofactors | Requires water and optimal pH [@grabowski1990] |
| Deficiency | Causes GlcCer accumulation in Gaucher disease [@beutler2001] |
| Associated Diseases | AD, Aging, ALI, Als, Alzheimer |
| Known Drugs/Compounds | AAV.GMU01_SS3-GBA1, glucosylceramide, NCGC00188758 |
| Interactions | ABCD3, ACHE, Actin, AD, AGING, ALPHA-SYNUCLEIN |
| SciDEX Hypotheses | Glucosylceramide accumulation nucleates alpha-synu |
| KG Connections | 1588 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
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