ABclonal Technology HEXA Rabbit mAb

Supplier:  ABclonal Technology A23090100UL

This gene encodes a member of the glycosyl hydrolase 20 family of proteins The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase This enzyme together with the cofactor GM2 activator protein catalyzes the degradation of the ganglioside GM2 and other molecules containing terminal N-acetyl hexosamines Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses including Tay-Sachs disease (GM2-gangliosidosis type I) Alternative splicing results in multiple transcript variants at least one of which encodes a preproprotein that is proteolytically processed

Catalog No. 50-000-06027