Gaucher disease (GD) (Online Mendelian Inheritance in Man (OMIM) 23080, 231000, 231005), the most common lysosomal storage disorder (LSD), is caused by mutations in the glucocerebrosidase gene (GBA) (OMIM 606463) which results in the deficiency of lysosomal enzyme glucocerebrosidase (GCase) (Enzyme commission number (EC) 3.2.1.45). This evidence concerns the gene GBA1 and Gaucher disease.