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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
GM1 gangliosidosis
Summary
- Synonym
-
- Beta-galactosidase deficiency
- deficiency of beta-galactosidase
- gangliosidosis GM1
- Definition
- A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside.
- Super Class
- gangliosidosis
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16278 | Beta-galactosidase |
