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Beta Galactosidase encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene have been associated with GM1-gangliosidosis and Morquio B syndrome. Diseases associated with GLB1 include Gm1-Gangliosidosis, Type I and Gm1-Gangliosidosis, Type Ii.
acid beta-galactosidase; AW125515; betagal; Beta-Gal; Beta-galactosidase; bgal; Bge; Bgl; Bgl-e; Bgl-s; Bgl-t; Bgs; Bgt; C130097A14Rik; EBP; Elastin receptor 1; elastin receptor 1, 67kDa; ELNR1; galactosidase beta 1; galactosidase, beta 1; GLB1; Glb-1; lactase; lysosmal hydrolase; lysosomal beta-galactosidase; lysosomal hydrolase; MPS4B; ßgal; ß-gal; ß-galactosidase
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10 mg