3.2.1.45), glucocerebrosidase (aka GCase or GBA1), is a 497-amino acid glycoprotein responsible for removing the glucose moiety from glucosylceramide (GlcCer), an essential step in lysosomal breakdown of most glycosphingolipids (GSLs) (1, 2) Mutations in the GBA1 gene at locus 1q21 can lead to cellular deficiency of glucocerebrosidase activity and cause Gaucher disease (GD). Here, GBA1 is linked to Gaucher disease.