Abcam, ab233610, Recombinant Human GM2A protein (His tag)

Size: 10µg
Recombinant Human GM2A protein (His tag) is a Human Full Length protein, in the 26 to 193 aa range, expressed in Escherichia coli, with >90%, suitable for SDS-PAGE, WB, Mass Spec.
Key facts
Purity:>90% SDS-PAGE,
Expression system:Escherichia coli,
Tags:His tag C-Terminus,
Applications:Mass Spec, WB, SDS-PAGESee reactivity dataSee the reactivity data table below for information on validated species and application combinations.,
Biologically active:No,
Accession:P17900,
Animal free:No,
Carrier free:No,
Species:Human,
Storage buffer:pH: 8Preservative: 3.4% ImidazoleConstituents: 2.9% Sodium chloride, 0.32% Tris HCl, 0.01% 2-Mercaptoethanol

Product details:
This product was previously labelled as GM2-AP

Properties and Storage Information:
Shipped at conditions-Blue Ice, Appropriate short-term storage conditions--80°C, Appropriate long-term storage conditions--80°C, Aliquoting information-Upon delivery aliquot, Storage information-Avoid freeze / thaw cycle

Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
The human GM2A also known as GM2 activator protein functions mechanically as a lysosomal lipid transfer protein. It possesses a mass of approximately 23 kDa. It is expressed mainly in the tissues that have a high lysosomal activity like the brain. It binds specific glycolipids such as GM2 ganglioside facilitating their interaction with enzymatic components in the lysosome.
Biological function summary
The GM2A protein belongs to a family of proteins that assist in the degradation of complex lipids. It is an essential component of the ganglioside degradation process where it acts as a cofactor rather than being part of any complex. GM2A helps transfer lipids to enzymes such as β-hexosaminidase A ensuring proper breakdown and recycling of gangliosides particularly in neuronal tissues.
Pathways
GM2A plays an important role in the lysosomal degradation pathway specifically involving lipid metabolism. The degradation of gangliosides utilizes GM2A to facilitate interaction between GM2 ganglioside and proteins such as β-hexosaminidase A a necessary step in breaking down these complex lipids. Another significant pathway relates to its role in maintaining the balance of sphingolipid metabolism highlighting its collaboration with enzymes involved in this process.
Impaired activity or mutation in GM2A can lead to lipid storage diseases notably Tay-Sachs disease. Errors in GM2A disrupt the breakdown of gangliosides resulting in harmful accumulation within lysosomes. This dysfunction also involves the β-hexosaminidase A enzyme reinforcing the link between these proteins in the pathological buildup of gangliosides associated with Tay-Sachs disease.