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GM2A - GM2 ganglioside activator
- Synonym(s) : cerebroside sulfate activator protein, SAP-3, sphingolipid activator protein 3
- Previous symbols and names : GM2 ganglioside activator protein
- Type : gene with protein product
- Chromosomal location : 5q33.1
- OMIM: 613109
- HGNC: 4367
- UniProtKB: P17900
- Genatlas: GM2A
- Ensembl: ENSG00000196743
- IUPHAR-DB: -
- Reactome: P17900
- LOVD: GM2A
Diseases list
- Disease-causing germline mutation(s) in GM2 gangliosidosis, AB variant
: AssessedAdditional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
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