Glucocerebrosidase

  • CAS Number: 37228-64-1

Glucocerebrosidase ( in the German language also glucocerebrosidase, chemically well glucosylceramidase ) is an enzyme that catalyzes the hydrolysis of β - glucosidic linkage of glucocerebroside ( D-glucosyl -N- acyl sphingosine ), an intermediate stage of glycolipid metabolism. The glucosylceramidase is a lysosomal protein.

Mutations in the corresponding gene are the cause of Gaucher disease, a lysosomal storage disease. The derived from the enzyme active alglucerase and imiglucerase be administered as a substitute for this deficiency disease.

Meanwhile, an increased risk of heterozygote carriers of Glucocerebrosidasemutationen for Parkinson's disease is observed. In particular, the disease occurs earlier than in the general population. The observable in Parkinson accumulation of α -synuclein in the lysosomes is directly attributable to a glucosylceramidase deficiency.

Catalyzed reaction

H2O ⇒ glucose

Of β -D - glucose is eliminated glucosylceramide.

Protein isoform Human Genome Organisation CAS registry number Anatomical Therapeutic Chemical Classification System DrugBank Glycoside hydrolase Organism Parkinson's disease Digital Object Identifier Cell (journal)
269486
de