Product Type: Antibody
Descritpion: 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.
Research Areas: Neuroscience
Recommended Dilutions: WB 1:500-1:2000, IHC 1:100-300, ELISA 1:20000
Size: 200 uL
Immunogen: Synthesized peptide derived from the Internal region of human HEXA.
Formulation: PBS with 0.02% sodium azide, 0.5% BSA and 50% glycerol, pH7.4
Purification: Affinity purification
Calculated MW: 58kDa
Tissue Specificity/Positive Control:
Cellular Localization: Lysosome.
Storage: Store at -20C. Avoid freeze / thaw cycles.