
GM2A - Wikipedia
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, extracts them from membranes, and presents them to beta- hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3.
GM2A Gene - GeneCards | SAP3 Protein | SAP3 Antibody
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. Among its related pathways are Sphingolipid metabolism and Innate Immune System.
GM2A gene - MedlinePlus
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 - MedlinePlus
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 have the acute infantile form of the disease.
Entry - *613109 - GM2 ACTIVATOR; GM2A - OMIM
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 substrate for the GM2 degradation by beta-hexosaminidase A (Klima et al., 1991).
The GM2A gene provides instructions for making a protein called the ganglioside GM2 activator.
Elevated ganglioside GM2 activator (GM2A) in human brain tissue …
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 integrity and a reduction in neuronal firing.
GM2 Gangliosidosis - Boston Children's Hospital
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 molecules inside the body’s cells.
GM2A — Early Detection Research Network
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-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines.
GM2 Activator Deficiency Disease Mouse - NIDDK
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 (OMIM#272750). Learn more on PubMed.