NCIt definition : A glycosphingolipid antigen expressed by a variety of human cancer cells. GM2 containing
vaccines have been shown to elicit antibodies production in melanoma patients without
deleterious effects associated with an immune response to GM2. Mutations in at least
1 of 3 recessive genes: HEXA, HEXB, and GM2A cause defects in GM2 catabolism, leading
to lysosomal lipid storage disorders that manifest primarily as neurodegenerative
diseases, including Tay-Sachs and Sandhoff Disease.;
Alternative definition : CDISC: A sialic acid-containing glycosphingolipid antigen and a component of the cell
plasma membrane that modulates cell signal transduction, with a designation of GM2.
It can be considered as an autoantigen and is commonly associated with autoimmune
neuropathies such as Guillain-Barre syndrome and multiple sclerosis.;