SCARB2 and action myoclonus-renal failure syndrome: AMRF is caused by mutations in SCARB2, which encodes LIMP-2, a lysosomal integral membrane protein with various functions including receptor recognition of phospholipids and viruses, cholesterol transport, and the transport of β- GBA (mutated in Gaucher disease) to the lysosome (Genetics Home Reference, 2003; Heybrock et al., 2019).