GBA1 and Gaucher disease: Gaucher disease (GD, OMIM #230800, ORPHA355) is a rare, autosomal, recessive genetic disorder determined by mutations in the GBA1 gene located on chromosome 1 (1q21), coding for the lysosomal enzyme, glucocerebrosidase (GCase, also called glucosylceramidase or acid β-glucosidase 1, EC: 4.2.1.25) [1,2,3,4,5,6,7].