Description
Product Characteristics:
Recombinant Human Ganglioside GM2 Activator/GM2A (C-6His)
antibodies-online can provide customization with regards to expression system, tag location and sequence for our made to order proteins designed and produced in Germany. Please contact our customer support for further information.:
Target Information: 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. [provided by RefSeq, Nov 2009]