GM2A
GM2A (ganglioside GM2 activator, also known as SAP-3, GM2-AP and GM2AP) is a small lysosomal lipid-binding and transfer protein. It is essential for the degradation of ganglioside GM2, acting as a substrate-specific co-factor for beta-hexosaminidase A. Browse Assay Genie's current range of GM2A research reagents below, or read on for the biology behind the target.
GM2A is a lipid-binding and transfer protein that is essential for the lysosomal degradation of ganglioside GM2. It extracts single GM2 molecules from intralysosomal luminal vesicle (ILV) membranes and presents them in soluble form to beta-hexosaminidase A (HEXA). HEXA then cleaves N-acetyl-D-galactosamine from the lipid, converting GM2 to GM3. GM2A and GM2 form a stoichiometric complex, and it is this complex that serves as the substrate for HEXA.
The protein has a dual function: mobilisation and solubilisation of membrane lipids, and presentation of lipid substrates to hydrolases. It also stimulates HEXA-mediated breakdown of the glycolipid GA2. Its large binding pocket can accommodate several single-chain phospholipids and fatty acids, and it shows some calcium-independent phospholipase activity. It also participates in cholesterol transfer. In the cell it is found in the lysosome.
The GM2A gene belongs to the HGNC group of MD-2 related lipid recognition domain containing proteins. Alternative splicing produces multiple transcript variants. Earlier names include GM2 ganglioside activator protein and GM2 ganglioside activator. Mutations in the gene cause GM2-gangliosidosis type AB, also called the AB variant of Tay-Sachs disease, which makes GM2A a reference point for work on lysosomal storage disorders and glycosphingolipid catabolism. The mouse ortholog is Gm2a.
Mutations in GM2A cause GM2-gangliosidosis type AB, the AB variant of Tay-Sachs disease, making it a key target in GM2 gangliosidosis research.
GM2A presents GM2 to beta-hexosaminidase A for conversion to GM3, so it is central to studies of glycosphingolipid degradation in the lysosome.
GM2A extracts single lipids from membranes and presents them as soluble substrates, a model for lipid mobilisation and presentation to hydrolases.
Its large binding pocket accommodates phospholipids and fatty acids, and it participates in cholesterol transfer, supporting work on lysosomal lipid handling.
GM2A is a lysosomal lipid-binding and transfer protein. It extracts single GM2 molecules from intralysosomal vesicle membranes and presents them in soluble form to beta-hexosaminidase A, which cleaves N-acetyl-D-galactosamine to give GM3. It also stimulates GA2 breakdown and participates in cholesterol transfer.
GM2A is also called SAP-3, GM2-AP and GM2AP. Earlier names include GM2 ganglioside activator protein and GM2 ganglioside activator. The HGNC full name is ganglioside GM2 activator. Alternative splicing of the gene gives multiple transcript variants.
Mutations in the GM2A gene result in GM2-gangliosidosis type AB, also known as the AB variant of Tay-Sachs disease. The protein is a required co-factor for beta-hexosaminidase A, so its loss impairs GM2 degradation. The mouse ortholog is Gm2a; check the datasheet of any product for its validated reactivity.
Other targets with similar gene symbols and research products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P17900; product specifications from Assay Genie datasheets.