b-galactosidase

C18 globotriaosylceramide is an endogenous sphingolipid found in mammalian cell membranes that is synthesized from lactosylceramide . It inhibits aggregation of human neutrophils induced by phorbol 12-myristate 13-acetate (PMA; 10008014) when used at a concentration of 1 μM. C18 globotriaosylceramide acts as a receptor for Shiga toxin in B cell-derived Raji cells and THP-1 monocytes. It accumulates in the brain, heart, kidney, liver, lung, and spleen in a mouse model of Fabry disease, a lysosomal storage disorder characterized by a deficiency in the enzyme α-galactosidase A. C18 globotriaosylceramide also accumulates in endothelial cells, pericytes, vascular smooth muscle cells, renal epithelial cells, dorsal ganglia neuronal cells, and myocardial cells in patients with Fabry disease.