Ganglioside GM2 activator presents GM2 to hexosaminidase for cleavage

Stable Identifier
R-HSA-1605717
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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The Ganglioside GM2 activator protein (GM2A) is a small lysosomal lipid transfer protein that extracts a single GM2 molecule from membranes and presents it in a soluble form to beta-hexosaminidase A for cleavage (Wright et al. 2003). Defects in GM2A are the cause of GM2-gangliosidosis type AB (GM2GAB) (MIM:272750), also known as Tay-Sachs disease AB variant (Schroeder et al. 1991).

Literature References
PubMed ID Title Journal Year
1915858 A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB

Schröder, M, Schnabel, D, Suzuki, K, Sandhoff, K

FEBS Lett 1991
12909021 Structural analysis of lipid complexes of GM2-activator protein

Wright, CS, Zhao, Q, Rastinejad, F

J Mol Biol 2003
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
sphingolipid activator protein activity of GM2A(32-193) [lysosomal lumen]
Physical Entity
Activity
Orthologous Events
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