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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.
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Protein Aliases: Acid beta-galactosidase; Beta-Gal; Beta-galactosidase; betagal; bgal; Elastin receptor 1; elastin receptor 1, 67kDa; Lactase; ß-gal; ß-galactosidase; ßgal
Gene Aliases: EBP; ELNR1; GLB1; MPS4B
UniProt ID: (Human) P16278
Entrez Gene ID: (Human) 2720
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