Glucocerebrosidase

β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an is_associated_with::enzyme with is_associated_with::glucosylceramidase activity that is needed to cleave, by is_associated_with::hydrolysis, the beta-glucosidic linkage of the chemical is_associated_with::glucocerebroside, an intermediate in is_associated_with::glycolipid metabolism. It is localized in the is_associated_with::lysosome and has a molecular weight of 59700 Daltons.

Clinical significance
is_associated_with::Mutations in the glucocerebrosidase is_associated_with::gene cause is_associated_with::Gaucher's disease, a is_associated_with::lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related is_associated_with::pseudogene is approximately 12 kb downstream of this gene on is_associated_with::chromosome 1. is_associated_with::Alternative splicing results in multiple transcript variants encoding the same protein.

Mutations in the glucocerebrosidase gene are also associated with is_associated_with::Parkinson's disease.

Drugs
is_associated_with::Alglucerase (Ceredase) was a version of glucocerebrosidase that was harvested from human is_associated_with::placental tissue and then modified with enzymes. It was approved by the FDA in 1991 and has been withdrawn from the market due to the approval of similar drugs made with is_associated_with::recombinant DNA technology instead of being harvested from tissue; drugs made recombinantly, since there is no concern about diseases being transmitted from the tissue used in harvesting, and are less expensive to manufacture.

Recombinant glucocerebrosidases used as drugs include:
 * is_associated_with::Imiglucerase
 * is_associated_with::Velaglucerase
 * is_associated_with::Taliglucerase alfa (Elelyso)