GM2 gangliosidosis

Summary
Synonym
  • gangliosidosis GM2
Definition
A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes.
Super Class
gangliosidosis
External Links
Disease Ontology
DOID:3321
Mondo Disease Ontology
MeSH
UMLS
WikiPathways (from TogoID)
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
2720 GLB1 galactosidase beta 1
2760 GM2A ganglioside GM2 activator
3073 HEXA hexosaminidase subunit alpha
3074 HEXB hexosaminidase subunit beta
7368 UGT8 UDP glycosyltransferase 8
10724 OGA O-GlcNAcase
284004 HEXD hexosaminidase D
Displaying 1 entry
Gene ID Gene Symbol Description Source
14667 Gm2a GM2 ganglioside activator protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024