Entrez gene ID | | 2720 |
Official gene symbol | | GLB1 |
Full name | | galactosidase, beta 1 |
Aliases | | ,EBP,ELNR1, |
Gene summary | | 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] |
Location | | Chromosome: 3 Locus: 3p21.33 |
Gene position | | 33138694 - 33038100 Map Viewer |
Gene orientation | | minus |
Gene size | | 100595 bp |
Gene sequence |
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OMIM ID | | 611458 |
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