Entity Details

Primary name GM2A
Entity type gene
Source Source Link

Details

PrimaryID2760
RefseqGeneNG_009059
SymbolGM2A
NameGM2 ganglioside activator
Chromosome5
Location5q33.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1989-02-23
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSAP3_HUMAN

GO terms

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GOName
GO:0005319 lipid transporter activity
GO:0005576 extracellular region
GO:0005829 cytosol
GO:0006687 glycosphingolipid metabolic process
GO:0006689 ganglioside catabolic process
GO:0006869 lipid transport
GO:0007611 learning or memory
GO:0009313 oligosaccharide catabolic process
GO:0009898 cytoplasmic side of plasma membrane
GO:0016004 phospholipase activator activity
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0019915 lipid storage
GO:0032428 beta-N-acetylgalactosaminidase activity
GO:0035578 azurophil granule lumen
GO:0043202 lysosomal lumen
GO:0043231 intracellular membrane-bounded organelle
GO:0043312 neutrophil degranulation
GO:0050885 neuromuscular process controlling balance
GO:0051345 positive regulation of hydrolase activity
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
272750 OMIMGM2-gangliosidosis AB (GM2GAB)An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the presence of both normal hexosaminidase A and B. The disease is caused by variants affecting the gene represented in this entry.