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Protein structure
GBA
Glucosylceramidase betaGBA1, GLUC
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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
Top validated antibodies |
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| Novus Biologicals |  H00002629-M01 |
7 references | Monoclonal |
WB
EL
ICC
IP
IHC
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| Abnova Corporation | H00002629-M01 |
5 references | Monoclonal |
WB
EL
ICC
IHC
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| antibodies-online | ABIN394481 |
5 references | Monoclonal |
WB
EL
ICC
IHC
|
|
| Invitrogen Antibodies | H00002629-M01 |
Monoclonal |
WB
EL
ICC
IHC
|
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| OriGene | TA325083 |
1 references | Polyclonal |
WB
IHC
FC
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