β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity (EC 3.2.1.45) that cleaves by hydrolysis the β-glycosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes (particularly skin cells).[5] It is localized in the lysosome, where it remains associated with the lysosomal membrane.[6] β-Glucocerebrosidase is 497 amino acids in length and has a molecular mass of 59,700 Da.[citation needed]
^ abcGRCm38: Ensembl release 89: ENSMUSG00000028048 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Vielhaber G, Pfeiffer S, Brade L, Lindner B, Goldmann T, Vollmer E, Hintze U, Wittern KP, Wepf R (November 2001). "Localization of ceramide and glucosylceramide in human epidermis by immunogold electron microscopy". The Journal of Investigative Dermatology. 117 (5): 1126–36. doi:10.1046/j.0022-202x.2001.01527.x. PMID 11710923.
^Rijnboutt S, Aerts HM, Geuze HJ, Tager JM, Strous GJ (March 1991). "Mannose 6-phosphate-independent membrane association of cathepsin D, glucocerebrosidase, and sphingolipid-activating protein in HepG2 cells". The Journal of Biological Chemistry. 266 (8): 4862–8. doi:10.1016/S0021-9258(19)67728-8. hdl:1887/50559. PMID 1848227.
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β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity...
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Israel. Development of taliglucerase alfa (Elelyso), a recombinant glucocerebrosidase enzyme produced from transgenic carrot cell cultures. Taliglucerase...
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cyclophellitol have been used for the detection of enzymes such as glucocerebrosidase, deficiency of which results in Gaucher's disease. Atsumi, S. et al...
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a sphingolipidosis described by a particular inadequacy in acidic glucocerebrosidase, which results in abnormal gathering of glucosylceramide essentially...
1960; 235: 3099–3103. Brady RO, Kanfer JN, Shapiro, D. Metabolism of glucocerebrosidase. II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem...
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disease may vary among populations. For example, two mutations in the glucocerebrosidase gene each cause Gaucher's disease in Ashkenazim, which is that group's...
published by the NIH: identifying mutations in the gene that codes for glucocerebrosidase as a risk factor for Parkinson's disease. In 2015, 23andMe made a...
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its development. The substance was used in form of the tartrate. β-Glucocerebrosidase, an enzyme needed for the metabolisation of glucocerebroside, is misfolded...
Gaucher have a defect in the enzyme called glucocerebrosidase (also known as acid β-glucosidase). Glucocerebrosidase is an enzyme, and its function is to convert...
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glucocerebroside-specific enzyme, which is a recombinant form of glucocerebrosidase. It has an identical amino acid sequence to the naturally occurring...
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beta-glucosides. Any one of over 50 different mutations in the gene of glucocerebrosidase have been found to affect activity of this hydrolase, producing variants...