GM2A is a lipid transfer protein that stimulates the enzymatic processing of gangliosides, and also T-cell activation through lipid presentation. This protein binds molecules of ganglioside GM2, …

2024年12月25日 · GM2A (Ganglioside GM2 Activator) is a Protein Coding gene. Diseases associated with GM2A include Gm2-Gangliosidosis, Ab Variant and Tay-Sachs Disease. …

The GM2A gene provides instructions for making a protein called the GM2 ganglioside activator. Learn about this gene and related health conditions.

GM2 activator deficiency (sometimes called GM2 gangliosidosis, AB variant) is a rare inherited disorder that causes progressive brain injury. Most individuals with GM2 activator deficiency …

The GM2 activator is a low molecular weight, soluble protein that binds to the GM2 ganglioside, extracts it from the membrane, and solubilizes it as an activator/lipid complex which forms the …

The GM2A gene provides instructions for making a protein called the ganglioside GM2 activator.

2022年9月21日 · Elevated ganglioside GM2 activator (GM2A) associates with reductions in both NI and MEA activity, and cell-derived GM2A alone is sufficient to induce a loss of neurite …

GM2 gangliosidosis is most often caused by a mutation in the HEXA or the GM2A gene, which prevents an enzyme called beta-hexosaminidase A from properly breaking down large …

From NCBI Gene: This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta …

Mice homozygous for the Gm2a tm1Rlp targeted mutation serve as a model of the human genetic disease known as the AB Variant of GM2-gangliosidosis or GM2 activator deficiency …