QuickView for beta Galactosidase (gene)

Gene Symbol:

GLB1 Homo sapiens

Full name:

galactosidase beta 1

Synonyms:

EBP, ELNR1, MPS4B, beta-galactosidase, acid beta-galactosidase, elastin receptor 1, 67kDa, lactase

Genomic Location:

Chr 3: 33013104-33113698

Description:

This gene 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 gangl...

View Full Description

This gene 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 may result in GM1-gangliosidosis and Morquio B syndrome.

View Less

Orthologs:

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

External Links:

Entrez Gene

Cytogenetic Map:

3p22.3

search → result