GBA (NM_000157) Human Recombinant Protein

• Background:

  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]

• Synonyms:

  GBA1; GCB; GLUC

• Gene ID:

  2629

• UniProt:

  P04062, A0A068F658

• Accession Number mRNA:

  NM_000157

• Chromosomal Location:

  1q22

• Expression System:

  HEK293T

• Tag:

  C-Myc/DDK

• Related Pathways:

  Lysosome, Metabolic pathways, Other glycan degradation, Sphingolipid metabolism

• Field of Research:

  Lysosome, Metabolic pathways, Other glycan degradation, Sphingolipid metabolism

• Concentration:

  >50 ug/mL as determined by microplate BCA method

• Purity:

  > 80% as determined by SDS-PAGE and Coomassie blue staining

• Activity:

  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.

• Form:

  Liquid

• Buffer:

  25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

• Function:

  Druggable Genome

• Molecular Weight:

  55.5 kDa

• Storage Conditions:

  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.

• Symbol:

  GBA

• Species:

  Human

• Protein ID:

  NP_000148

• Overview:

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

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/2629

• Uniprot URL:

  https://www.uniprot.org/uniprot/P04062

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_000157

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_000148