Recombinant Human Ganglioside GM2 activator (GM2A)

Uniprot Id

P17900

Target Species

Human

Target Name

GM2A

Target Full Name

Ganglioside GM2 activator

Target Function

The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity. Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta-hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3. Has cholesterol transfer activity.

Target Involvement

GM2-gangliosidosis AB (GM2GAB)

Target Subcellular Location

Lysosome.

Target Research Area

Metabolism, Signal Transduction

Target Synonyms

Cerebroside sulfate activator protein; ganglioside GM2 activator; Ganglioside GM2 activator isoform short; Ganglioside GM2 activator precursor; GM2 activator; GM2 AP; GM2 ganglioside activator; GM2 ganglioside activator protein; GM2-AP; GM2A; GM2AP; OTTHUMP00000160619; SAP 3; SAP-3; SAP3; SAP3_HUMAN; Shingolipid activator protein 3; Sphingolipid activator protein 3

Target Background

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. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants.