GBA (NM_000157) Human Recombinant Protein

CAT#: TP316061

Recombinant protein of human glucosidase, beta; acid (includes glucosylceramidase) (GBA), transcript variant 1

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 Product Datasheet for 'TP316061'

USD 680


Availability*
In Stock

Size
    • 20 ug

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Specifications

Product Data
Description Recombinant protein of human glucosidase, beta; acid (includes glucosylceramidase) (GBA), transcript variant 1
Species Human
Expression Host HEK293
Expression cDNA Clone or AA Sequence Recombinant protein was produced with TrueORF clone, RC216061. Click on the TrueORF clone link to view cDNA and protein sequences.
Tag C-MYC/DDK
Predicted MW 55.5 kDa
Concentration >50 ug/mL as determined by microplate BCA method
Purity > 80% as determined by SDS-PAGE and Coomassie blue staining
Buffer 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol.
Bioactivity The enzymatic activity of TP316061 (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.
Reference Data
RefSeq NP_000148
Locus ID 2629
Refseq Size 2324
Cytogenetics 1q22
Refseq ORF 1608
Synonyms GBA1; GCB; GLUC
Summary 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]
Protein Families
Protein Pathways
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