Reactome | GM2A binds and mobilizes ligands

GM2A binds and mobilizes ligands

Stable Identifier

R-HSA-1605717

Type

Reaction [transition]

Species

Homo sapiens

Compartment

lysosomal lumen, multivesicular body, internal vesicle membrane

ReviewStatus

5/5

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Ganglioside GM2 activator (GM2A, GM2AP) acts as carrier protein solubilizing the membrane-bound glycolipids GM1, GM2, GA1, GA2, and SM2A, functioning as a cofactor in their enzymatic degradation. GM2A is essential for the hydrolysis of GM2, and defects in GM2A function lead to GM2 gangliosidosis AB (MIM:272750), also known as Tay-Sachs disease AB variant (Schroeder et al., 1991; Wilkening et al., 2000; reviewed by Sandhoff & Sandhoff, 2018).

Literature References

PubMed ID	Title	Journal	Year
29802621	Emerging concepts of ganglioside metabolism Sandhoff, R, Sandhoff, K	FEBS Lett	2018
10942779	Degradation of membrane-bound ganglioside GM1. Stimulation by bis(monoacylglycero)phosphate and the activator proteins SAP-B and GM2-AP Wilkening, G, Linke, T, Uhlhorn-Dierks, G, Sandhoff, K	J Biol Chem	2000
12909021	Structural analysis of lipid complexes of GM2-activator protein Wright, CS, Rastinejad, F, Zhao, Q	J Mol Biol	2003
1915858	A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB Suzuki, K, Sandhoff, K, Schröder, M, Schnabel, D	FEBS Lett	1991