"GBA" Related Products


Recombinant Human GBA, His-tagged

Cat.No. : GBA-22H
Product Overview : Recombinant Human GBA, fused with C-terminal 6-His tag, was expressed in CHO Cells.
Description : 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.
Source : CHO Cells
Species : Human
Tag : His
Predicted N Terminal : Ala40
Form : Supplied as a 0.2 μm filtered solution in Tris, NaCl, Glycerol and DTT.
Bio-activity : Measured by its ability to hydrolyze 4-methylumbelliferyl-beta-D-glucopyranoside.
Molecular Mass : Predicted Molecular Mass: 56 kDaSDS-PAGE: 58-75 kDa, reducing conditions
Endotoxin : < 1.0 eu per 1 μg of the protein by the lal
Purity : >95%, by SDS-PAGE under reducing conditions and visualized by Colloidal Coomassie® Blue stain at 5 μg per lane.
Storage : Avoid repeated freeze-thaw cycles.6 months from date of receipt, -70 °C as supplied.3 months, -70 °C under sterile conditions after opening.
Gene Name : GBA glucosidase, beta, acid [ Homo sapiens ]
Official Symbol : GBA
Synonyms : GBA; GCB; GBA1; GLUC; glucosidase, beta, acid; glucosylceramidase; beta-GC; alglucerase; imiglucerase; acid beta-glucosidase; beta-glucocerebrosidase; lysosomal glucocerebrosidase; D-glucosyl-N-acylsphingosine glucohydrolase; NP_000148.2; EC; NP_001005741.1; NP_001005742.1; NP_001165282.1; NP_001165283.1
Gene ID : 2629
mRNA Refseq : NM_000157
Protein Refseq : NP_000148
MIM : 606463
UniProt ID : P04062
Chromosome Location : 1q21
Pathway : Glycosphingolipid metabolism; Other glycan degradation; Sphingolipid metabolism
Function : glucosylceramidase activity; protein binding; receptor binding

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