GBA1 and Gaucher disease: Gaucher disease (GD), a lysosomal storage disorder, results from the defective activity of lysosomal acid β-glucocerebrosidase (GCase, EC 3.2.1.4 https://enzyme.expasy.org/EC/3.2.1.45, accessed on 3 April 2023), encoded by the GBA1 gene.