beta Galactosidase is a lysosomal beta Galactosidase that hydrolyzes the terminal beta Galactose from Ganglioside and Keratan sulfate. In lysosome, the mature beta Galactosidase protein associates with Cathepsin A and Neuraminidase 1 to form the lysosomal multienzyme complex . An alternative splicing at the RNA level of beta Galactosidase results a catalytically inactive beta Galactosidase that plays an important role in vascular development. Defects of beta-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 beta Galactosidase, which result in different residual activities of the mutant enzymes and a spectrum of symptoms in the two related diseases.
TMPJ-00869
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