HEXA Polyclonal Antibody

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£195.30

War £217.00

SKU:: E-AB-92661
Zusätzliche Namen:: HEXA,TSD
Anwendung:: WB
Konzentration:: 1 mg/ml
Aufreinigung:: Affinity Purified
Lagerbedingungen:: -20[o]C Avoid freeze/thaw cycles.
Hersteller:: Elabscience
Host:: Rabbit
Reaktivitäten:: Human, Mouse, Rat
Buffer:: Phosphate buffered solution, pH 7.4, containing 0.05% stabilizer and 50% glycerol.
Immunogen:: Recombinant fusion protein of human HEXA
Uniprot:: P06865
Synonyme:: beta-hexosaminidase subunit alpha;beta-N-acetylhexosaminidase subunit alpha;hexosaminidase A (alpha polypeptide);hexosaminidase subunit A;N-acetyl-beta-glucosaminidase subunit alpha;TSD
Weitere Details:: 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.