Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
GM2 gangliosidosis, AB variant
Summary
- Synonym
-
- Tay-Sachs disease AB variant
- Tay-Sachs disease, variant AB
- Definition
- A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex.
- Super Class
- GM2 gangliosidosis
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60502 | Protein O-GlcNAcase | |
| P06865 | Beta-hexosaminidase subunit alpha | |
| P07686 | Beta-hexosaminidase subunit beta | |
| P17900 | Ganglioside GM2 activator |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002478 | Progressive spastic quadriplegia |
| HP:0000719 | Inappropriate behavior |
| HP:0008897 | Postnatal growth retardation |
| HP:0002200 | Pseudobulbar signs |
| HP:0012547 | Abnormal involuntary eye movements |
| HP:0001347 | Hyperreflexia |
| HP:0002476 | Primitive reflex |
| HP:0100852 | Abnormal fear-induced behavior |
| HP:0002072 | Chorea |
| HP:0004322 | Short stature |
