GLB1 Protein, Human, Recombinant (His)

? Galactosidase is a lysosomal ? Galactosidase that hydrolyzes the terminal ? Galactose from Ganglioside and Keratan sulfate. In lysosome, the mature ? Galactosidase protein associates with Cathepsin A and Neuraminidase 1 to form the lysosomal multienzyme complex . An alternative splicing at the RNA level of ? Galactosidase results a catalytically inactive ? Galactosidase that plays an important role in vascular development. Defects of ?-galactosidase (GLB1) are the cause of diseases like GM1-gangliosidosis which is a lysosomal storage disease and Morquio Syndrome B that cause patients to have abnormal elastic fibers. More than 100 mutations have been identified for ? Galactosidase, which result in different residual activities of the mutant enzymes and a spectrum of symptoms in the two related diseases.