GBA (NM_000157) Human Recombinant Protein

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]

The enzymatic activity of PH35743M5 (GBA) was measured by its ability to hydrolyze a fluorescent substrate 4-methylumbelliferyl-β-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- β-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.

Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.