Glucosylceramidase/GBA Antibody (812201) [Alexa Fluor™ Plus 555]

• Clone: 812201
• Clonality: Monoclonal
• Host: Mouse
• Conjugate: Alexa Fluor Plus 555

Glucosylceramidase/GBA Antibody (812201) [Alexa Fluor™ Plus 555] Summary

• Specificity: Detects human Glucosylceramidase/GBA in direct ELISAs. In direct ELISAs, no cross-reactivity with recombinant human Cytosolic beta‑Glucosidase/GBA3 is observed.
• Isotype: IgG1
• Clonality: Monoclonal
• Host: Mouse

Packaging, Storage & Formulations

• Storage: Protect from light. Do not freeze. 12 months from date of receipt, 2 to 8 °C as supplied
• Buffer: Supplied 0.2 mg/mL in a saline solution containing BSA and Sodium Azide.

Notes

This product is produced by and ships from R&D Systems, Inc., a Bio-Techne brand.

Alternate Names for Glucosylceramidase/GBA Antibody (812201) [Alexa Fluor™ Plus 555]

• Acid beta-glucosidase
• Alglucerase
• beta-glucocerebrosidase
• D-glucosyl-N-acylsphingosine glucohydrolase
• EC 3.2.1.45
• GBA
• GBA1
• GC
• GCB
• GLUC
• glucosidase, beta, acid
• glucosidase, beta; acid (includes glucosylceramidase)
• Glucosylceramidase
• Imiglucerase
• lysosomal glucocerebrosidase

Background

Glucosylceramidase is a lysosomal enzyme that cleaves the beta-glucosidic linkage of glucosylceramide (1, 2), an intermediate in glycolipid metabolism. The mature enzyme has 497 amino acids with a molecular weight of 62 kDa (3). Glycosylation occurs at four of five N-glycosylation sites and is essential for the trafficking and activity of the enzyme (4). The enzyme is activated in lysosomes by saposin C, although the mechanism of activation is not well understood (5). Defects in Glucosylceramidase are the cause of Gaucher disease, also known as glucocerebrosidase deficiency (6). Gaucher disease is the most prevalent lysosomal storage disease, characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Symptoms of Gaucher disease may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions, severe neurologic complications, swelling of lymph nodes, anemia, low blood platelets and yellow fatty deposits on the white of the eye (7). Currently, enzyme replacement therapy is used to treat patients with the disease (8, 9).

1. Sorge, J. et al. (1985) Proc. Natl. Acad. Sci. USA 82:7289.
2. Ginns, E. I. et al. (1984) Biochem. Biophyl. Res. Commun. 123:574.
3. Horowitz, M. et al. (1989) Genomics 4:87.
4. Grace, M.E. et al. (1994) J. Biol. Chem. 269:2283.
5. Bruhn, h. (2005) Biochem. J. 389:249.
6. Liou, B. et al. (2006) J. Biol. Chem. 281:4242.
7. Grabowski, G.A. (2008). Lancet 372: 1263–1271.
8. Zheng, W. et al. (2007) Proc. Natl. Acad. Sci. USA 104:13192.
9. Beutler, E. and Gelbart, T. (1996) Hum. Mutat. 8:207.

Limitations

This product is for research use only and is not approved for use in humans or in clinical diagnosis. Primary Antibodies are guaranteed for 1 year from date of receipt.