Specifications
Immunogen
A synthetic peptide of human GM2A is used for rabbit immunization.
Target
Alternative Names
GM2A; GM2 ganglioside activator; GM2 ganglioside activator protein; ganglioside GM2 activator; cerebroside sulfate activator protein; SAP 3; sphingolipid activator protein 3; shingolipid activator protein 3; SAP-3; GM2-AP;
Product Background
Antigen Description
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.
Pathway
Glycosphingolipid metabolism, organism-specific biosystem; Lysosome, organism-specific biosystem; Lysosome, conserved biosystem; Metabolism, organism-specific biosystem; Metabolism of lipids and lipoproteins, organism-specific biosystem; Sphingolipid metabolism, organism-specific biosystem;
Citations
Publication ()
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