Scavenger receptor class B member 2 (SCARB2) plays an important role in the maintenance and generation of lysosomes and endosomes. It is a specific receptor for glucocerebrosidase (GCase). It transports GCase from the endoplasmic reticulum, to the lysosomes for degradation. In the mouse model, knockout of SCARB2 leads to a decrease in the activity of GCase. Studies have shown th at SCARB2 may contribute to Gaucher disease. Mutations in the gene encoding this protein have been associated with action myoclonus renal failure (AMRF) and myoclonic epilepsy.
