Active Recombinant Human GBA, MYC/DDK-tagged

• Cat.No.: GBA-020H
• Product Overview: Recombinant Human GBA, fused with C-terminal MYC/DDK, was expressed in HEK293 cells.

Specification

• Species: Human
• Source: HEK293
• Tag: DDK&Myc
• 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.
• Bio-activity: The enzymatic activity of GBA was measured by its ability to hydrolyze a fluorescent substrate 4-methylumbelliferyl-ß-D-glucopyranoside. The specific activity is > 70,000 pmol/hour/µg, as measured under the following conditions: 27 ng of GBA was incubated with 10 mM 4-methylumbelliferyl- ß-D-glucopyranoside in the following buffer at 37°C for 40 min: 150 mM citrate-phosphate buffer, pH 5.4, 0.25% (w/w) sodium taurocholate, 0.25% (w/w) Triton X-100, and 1% bovine serum albumin. The reaction was terminated by adding 0.5 volume of 1M glycine buffer, pH 12.5. The hydrolyzed product of reaction, 4-methylumbelliferone (4-MU), was measured using a FlexStation 3 microplate reader (Ex365/Em445). Specific activity of GBA was calculated based on a standard curve of known concentration of 4-MU.
• Molecular Mass: 55.5 kDa
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Concentration: >50 ug/mL as determined by microplate BCA method
• Storage Buffer: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol.

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