Gaucher disease occurs due to the mutations in GBA1 (in human)/Gba1 (in mouse) which leads to the functional disruption of the enzyme, Acid β-glucosidase (GCase; EC 4.2.1.25) responsible for the biochemical degradation of GC and GS that are essential for the proper function of skin, cell survival, and embryonal development [56,57,58,59]. The gene discussed is GBA1; the disease is Gaucher disease.