Active 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.

Specification

• Species: Human
• Source: CHO
• Tag: His
• 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.
• 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 Information

• 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 3.2.1.45; 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