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Description
This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq]
Specifications
Specifications
| Antigen | HEXA |
| Applications | ELISA, Immunohistochemistry (PFA fixed), Western Blot |
| Classification | Monoclonal |
| Clone | AT20F1 |
| Conjugate | Unconjugated |
| Description | Mouse monoclonal antibody raised against partial recombinant human HEXA. |
| Dilution | ELISA Immunohistochemistry (Formalin/PFA-fixed paraffin-embedded sections) (10 ug/mL) Western Blot (1:3000) The optimal working dilution should be determined by the end user. |
| Formulation | In PBS, pH 7.4 (10% glycerol, 0.02% sodium azide) |
| Gene Alias | MGC99608/TSD |
| Gene Symbols | HEXA |
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