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.
Pack Size | 100ul, 1ml, 20ul |
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Applications | ELISA, IF/ICC, WB |
Host Species | Rabbit |
Ig Isotype | IgG |
Antibody Type | Polyclonal Antibody |
Organism Species | Human |
Concentration | – |
Product Synonyms | HEXA |
Observed Mol Wt | 61kDa |
Alternative Names | TSD; HEXA |
Immunogen (Antigen) | Recombinant protein |
Format | Liquid |
Buffer Formulation | 50% glycerol, PBS with 0.05% proclin300, pH7.3 |
Reactivity | Human, Mouse, Rat |
Uniprot ID | 3073 |
Gene ID | P06865 |
Purification | Antigen-specific affinity chromatography followed by Protein A affinity chromatography |
Usage | For Research Use Only. Not for diagnostics or human use. |
Shelf Life | 12 months at time of shipping |
Shipping | Shipped in Dry Ice at -20 Degree Celsius |
Storage | Store at -20 Degree Celsius. It is recommended to aliquot and store to avoid repeated freeze-thaw as it affects the stability of the antibody. |
Research Areas | Neuroscience |
KD/KO Validated | KD Validated |
Disclaimer | The data indicated herein are as indicated and validated in our laboratory. These reagents are for research use only and not for in-vitro diagnostics or human use. |
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