QuickView for glb1;jsessionid=57B3F1DD78A0AACC610AEB3301ACA097;jsessionid=0A0E48CE7C1929977AE40A85854EFE49 (gene)

Gene Symbol:

Glb1 Mus musculus

Full name:

galactosidase, beta 1

Synonyms:

AW125515, Bge, Bgl, Bgl-e, Bgl-s, Bgl-t, Bgs, Bgt, C130097A14Rik, beta-galactosidase, acid beta-galactosidase, lactase

Genomic Location:

Chr 9: 114310237-114383495

Description:

This gene encodes a preproprotein that is proteolytically cleaved to yield a signal peptide and a proproptein that is subsequently processed to generate the active mature peptide. The encoded protein is a lysosomal enzyme that catalyzes the hydrolysis of terminal beta-D-galactose residues in various substrates like lactose, ganglioside GM1 and othe...

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This gene encodes a preproprotein that is proteolytically cleaved to yield a signal peptide and a proproptein that is subsequently processed to generate the active mature peptide. The encoded protein is a lysosomal enzyme that catalyzes the hydrolysis of terminal beta-D-galactose residues in various substrates like lactose, ganglioside GM1 and other glycoproteins. Mutations in the human gene are associated with GM1-gangliosidosis and Morquio B syndrome. Disruption of the mouse gene mirrors the symptoms of human gangliosidosis. Alternative splicing results in multiple transcript variants.

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Orthologs:

Homo sapiens ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Canis lupus familiaris ,  Gallus gallus ,  Pan troglodytes ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

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