Glucocerebrosidase: Functions in and Beyond the Lysosome.

J Clin Med

Medical Biochemistry, Leiden Institute of Chemistry, Leiden University, Faculty of Science, 2333 CC Leiden, The Netherlands.

Published: March 2020

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Article Abstract

Glucocerebrosidase (GCase) is a retaining β-glucosidase with acid pH optimum metabolizing the glycosphingolipid glucosylceramide (GlcCer) to ceramide and glucose. Inherited deficiency of GCase causes the lysosomal storage disorder named Gaucher disease (GD). In GCase-deficient GD patients the accumulation of GlcCer in lysosomes of tissue macrophages is prominent. Based on the above, the key function of GCase as lysosomal hydrolase is well recognized, however it has become apparent that GCase fulfills in the human body at least one other key function beyond lysosomes. Crucially, GCase generates ceramides from GlcCer molecules in the outer part of the skin, a process essential for optimal skin barrier property and survival. This review covers the functions of GCase in and beyond lysosomes and also pays attention to the increasing insight in hitherto unexpected catalytic versatility of the enzyme.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141376PMC
http://dx.doi.org/10.3390/jcm9030736DOI Listing

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