Western Blot analysis of HEK293T cells transfected with the Lane 1: pCMV6-ENTRY control and Lane 2: pCMV6-ENTRY GLB1 cDNA for 48 hrs (5 ug/lane) using GLB1 monoclonal antibody, clone 2F6 (Cat # MAB12996).
This gene encodes beta-galactosidase-1, a lysosomal enzyme that hydrolyzes the terminal beta-galactose from ganglioside substrates and other glycoconjugates. Defects in this gene are the cause of GM1-gangliosidosis and Morquio B syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq