|Application ||WB, FC, E|
|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).|
|Immunogen||Purified recombinant fragment of human HEXA expressed in E. Coli. |
|Formulation||Purified antibody in PBS with 0.05% sodium azide|
|Other Names||Beta-hexosaminidase subunit alpha, 188.8.131.52, Beta-N-acetylhexosaminidase subunit alpha, Hexosaminidase subunit A, N-acetyl-beta-glucosaminidase subunit alpha, HEXA|
WB~~1/500 - 1/2000
FC~~1/200 - 1/400
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||HEXA Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity.|
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Clin Biochem. 2009 Jul;42(10-11):1187-9. Pediatr Res. 2010 Feb;67(2):217-20.
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