What does the GM2 activator protein do?
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What does the GM2 activator protein do?
Normal Function. The GM2A gene provides instructions for making a protein called the GM2 ganglioside activator. This protein is necessary for the normal function of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord (central nervous system).
Where does GM2 ganglioside come from?
Ganglioside GM2 is abundant in cells of the central nervous system and accumulates within the lysosomes of neurons and macrophages.
Is GM2 ganglioside a fatty acid?
Gangliosides. Gangliosides are the most complex group of glycosphingolipids. These ceramide (a family of lipids composed of sphingosine and fatty acid) oligosaccharides are composed of a sugar and at least one sialic acid residue. They are the primary component of cell membranes and make up 6% of brain lipids.
Is GM2 toxic?
Mutations in the GM2A gene disrupt the activity of the GM2 ganglioside activator, which prevents beta-hexosaminidase A from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord.
Is ganglioside a protein?
In bilayer environments, gangliosides segregate into microdomains (rafts) enriched in sphingomyelin, cholesterol, and gangliosides,21 and glycosynapses, which are formed by specific proteins and gangliosides but without cholesterol. These microdomains are highly dynamic, both spatially and temporally.
What is ganglioside made up of?
Gangliosides are glycosphingolipids composed of a ceramide lipid tail attached through glycosidic linkage to a glycan headgroup containing one or more sialic acid residues (Figure 1).
What is GM2 stand for?
GM2
| Acronym | Definition |
|---|---|
| GM2 | General MIDI 2 |
| GM2 | Disialotetrahexosylganglioside |
| GM2 | Gunner’s Mate Second Class (USN Rating) |
What are gangliosides made of?
What are gangliosides used for?
Gangliosides are enriched in cell membrane microdomains (“lipid rafts”) and play important roles in the modulation of membrane proteins and ion channels, in cell signaling and in the communication among cells.
What is the relationship between grp94 and gm2-gm3 gangliosides ratio?
GM2-GM3 gangliosides ratio is dependent on GRP94 through down-regulation of GM2-AP cofactor in brain metastasis cells. Review of GM2A mutations causing GM2 activator protein deficiency and GM2 gangliosidosis-AB variant.
What is the role of sphingolipid activator proteins in GM2A?
Review of GM2A mutations causing GM2 activator protein deficiency and GM2 gangliosidosis-AB variant. Studies indicate that sphingolipid activator proteins (SAPs) and anionic lipids are essential stimulators to reach physiological rates of lysosomal sphingolipid degradation.
Does ganglioside GM2 activator play a role in cancer cell migration?
Identification of ganglioside GM2 activator playing a role in cancer cell migration through proteomic analysis of breast cancer secretomes. Shin J, et al. Cancer Sci, 2016 Jun. PMID 27002480, Free PMC Article
Where is ganglioside GM2 found in the body?
Ganglioside GM2 is abundant in cells of the central nervous system and accumulates within the lysosomes of neurons and macrophages. Clinical features of Tay–Sachs disease include a cherry-red spot on the retina, blindness, and mental retardation.
