galactosidase, beta 1
Symbol
GLB1
(may also be known as: None)
Organism
Human
Description
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, Oct 2008]
Orthologs
| Symbol | Species | |
|---|---|---|
| glb1 | Danio rerio | |
| Glb1 | Mus musculus | |
| Glb1 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0005975 | carbohydrate metabolic process | biological_process | |
| GO:0006665 | sphingolipid metabolic process | biological_process | |
| GO:0006687 | glycosphingolipid metabolic process | biological_process | |
| GO:0019388 | galactose catabolic process | biological_process | |
| GO:0044281 | small molecule metabolic process | biological_process | |
| GO:0005625 | soluble fraction | cellular_component | |
| GO:0005737 | cytoplasm | cellular_component | |
| GO:0005764 | lysosome | cellular_component | |
| GO:0043202 | lysosomal lumen | cellular_component | |
| GO:0048471 | perinuclear region of cytoplasm | cellular_component | |
| GO:0003824 | catalytic activity | molecular_function | |
| GO:0004553 | hydrolase activity, hydrolyzing O-glycosyl compounds | molecular_function | |
| GO:0004565 | beta-galactosidase activity | molecular_function | |
| GO:0005515 | protein binding | molecular_function | |
| GO:0016936 | galactoside binding | molecular_function | |
| GO:0043169 | cation binding | molecular_function | |