Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder that results from loss of function of acid β-glucosidase (EC 3.2.1.45; lysosomal glucocerebrosidase) due to mutations in the glucocerebrosidase gene, GBA1 (Grabowski et al. 2010). The gene discussed is GBA1; the disease is Gaucher disease.