Glucosylceramidase (GCase)

Glucosylceramidase (GCase), encoded by the GBA1 gene, is a lysosomal enzyme that hydrolyzes glucosylceramide into glucose and ceramide. This enzyme is critical for sphingolipid metabolism and cellular recycling. Deficiency or mutations in GBA1 lead to Gaucher disease, characterized by the accumulation of glucosylceramide. GCase is also implicated in Parkinson's disease. Therapeutic strategies targeting GCase include enzyme replacement therapy and small molecule chaperones.

Other names

β-glucocerebrosidaseLysosomal acid β-glucocerebrosidase

Enzyme replacement therapy provides exogenous functional enzyme to break down accumulated glucosylceramide. Small molecule chaperones bind to and stabilize the mutant enzyme, facilitating its proper folding and trafficking to lysosomes.