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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]
Function [ edit ] The protein encoded by this gene is a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme β-hexosaminidase A . β-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2 , and other molecules containing terminal N-acetyl ...
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 ...
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 ...
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.
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.
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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 ]