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In organic chemistry, GM2 is a type of ganglioside. G refers to ganglioside, the M is for monosialic (as in it has one sialic acid), and 2 refers to the fact that it was the second monosialic ganglioside discovered. It is associated with GM2 gangliosidoses such as Tay–Sachs disease. [1]
The functions of gangliosides as specific determinants suggest its important role in the growth and differentiation of tissues as well as in carcinogenesis. It has been found that tumor formation can induce the synthesis of a new complement of ganglioside, and very low concentrations of a specific ganglioside can induce differentiation of ...
This enzyme catalyses the formation of the gangliosides (i.e. sialic-acid-containing glycosphingolipids) GM2, GD2 and SM2 from GM3, GD3 and SM3, respectively. References [ edit ]
14667 Ensembl ENSG00000196743 ENSMUSG00000000594 UniProt P17900 Q60648 RefSeq (mRNA) NM_001167607 NM_000405 NM_010299 RefSeq (protein) NP_000396 NP_001161079 NP_034429 Location (UCSC) Chr 5: 151.21 – 151.27 Mb Chr 11: 54.99 – 55 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse GM2 ganglioside activator also known as GM2A is a protein which in humans is encoded by the GM2A gene ...
Tay–Sachs disease occurs when hexosaminidase A loses its ability to function. People with Tay–Sachs disease are unable to remove the GalNAc residue from the G M2 ganglioside, and as a result, they end up storing 100 to 1000 times more G M2 gangliosides in the brain than the unaffected person. Over 100 different mutations have been ...
The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase. This enzyme, combined with the GM2 activator protein, is responsible for the breakdown of ganglioside GM2 within the lysosome. Defects in the HEXA gene, however, prevent this degradation, leading to a buildup of toxins in brain and spinal cord cells.
GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Mutations in the GM2A gene cause AB variant. The GM2A gene provides instructions for making a protein called the GM2 activator.
GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. [6]