The enzyme acts on the substrate glucocerebroside which is a component of the cell membrane. In the normal lysosome, protein saposin C presents glucocerebroside to GBA which activates the enzyme. This enzyme is responsible for hydrolytic breakdown of glucosylceramide to glucose and ceramide. Deficiency of the enzyme leads to accumulation of glucosylceramide and other glycolipids in the lysosomes of macrophages, primarily in the spleen, liver, bone marrow, brain, osteoclasts and less often the lungs, skin, kidneys, conjunctivae and heart. The decimated form of glucosylceramide, glucosylsphingosine, is elevated in neuropathic disease and correlates more with phenotype severity compared to
The enzyme acts on the substrate glucocerebroside which is a component of the cell membrane. In the normal lysosome, protein saposin C presents glucocerebroside to GBA which activates the enzyme. This enzyme is responsible for hydrolytic breakdown of glucosylceramide to glucose and ceramide. Deficiency of the enzyme leads to accumulation of glucosylceramide and other glycolipids in the lysosomes of macrophages, primarily in the spleen, liver, bone marrow, brain, osteoclasts and less often the lungs, skin, kidneys, conjunctivae and heart. The decimated form of glucosylceramide, glucosylsphingosine, is elevated in neuropathic disease and correlates more with phenotype severity compared to