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GBA
Loading...Anti-GBA Products
- Mouse Anti-GBA Recombinant Antibody (clone 22G4) (MOB-1694z)
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- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG2a
- Application: WB, IHC
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- Rabbit Anti-GBA Recombinant Antibody (clone JM10-76) (MRO-0639-CN)
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- Species Reactivity: Human, Rat
- Type: Rabbit IgG
- Application: WB, IHC
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More Infomation
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For Research Use Only. Not For Clinical Use.
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1.
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Hofbauer cells, Syncytiotrophoblasts)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Interacts with saposin-C (PubMed:10781797). Interacts with SCARB2 (PubMed:18022370). Interacts with TCP1 (PubMed:21098288). May interact with SNCA; may inhibit the glucosylceramidase activity (PubMed:23266198). Interacts with GRN; this interaction prevents aggregation of GBA-SCARB2 complex via interaction with HSPA1A upon stress (PubMed:27789271).
Molecular function
Glycosidase, Glycosyltransferase, Hydrolase, Transferase
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