human glucocerebrosidase cDNA

Human glucocerebrosidase cDNA is the complementary DNA sequence encoding the lysosomal enzyme beta-glucocerebrosidase (glucosylceramidase). In a therapeutic context, it is primarily utilized as the genetic payload for gene therapy constructs aimed at treating Gaucher's disease. The cDNA is typically inserted into viral vectors—most commonly retroviral or lentiviral—which are used to transduce the patient's hematopoietic stem cells. Once these cells are successfully engrafted, the cDNA provides the instructions for the endogenous production of functional glucocerebrosidase, thereby correcting the enzyme deficiency that leads to the pathological accumulation of glucocerebroside in macrophages. Beyond gene therapy, the cDNA has also been employed in recombinant protein production systems, including transgenic plant platforms such as tobacco, to manufacture the enzyme for potential enzyme replacement therapy.

Other names

human GBA cDNAglucocerebrosidase genehGC cDNAGBA gene sequence