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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 410 | ARSA | arylsulfatase A | |
| 1118 | CHIT1 | chitinase 1 | |
| 2588 | GALNS | galactosamine (N-acetyl)-6-sulfatase | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 4758 | NEU1 | neuraminidase 1 | |
| 5476 | CTSA | cathepsin A | |
| 10724 | OGA | O-GlcNAcase | |
| 113612 | CYP2U1 | cytochrome P450 family 2 subfamily U member 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60502 | Protein O-GlcNAcase | |
| P10619 | Lysosomal protective protein | |
| P15289 | Arylsulfatase A | |
| P16278 | Beta-galactosidase | |
| P34059 | N-acetylgalactosamine-6-sulfatase | |
| Q13231 | Chitotriosidase-1 | |
| Q99519 | Sialidase-1 |
