Species: Human
Application Note: Measured by its ability to hydrolyze 4-methylumbelliferyl-N-acetyl-β-D-glucosaminide (4-MU-Glc-NAc). The specific activity is > 1,250 pmoles/min/μg.
Form: Lyophilized powder
Buffer (with preservative): Batch dependent (please contact us for details)
Concentration:
Background: 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. [provided by RefSeq, Jan 2016]
Uniprot ID: P06865
Region Sequence: C-terminal polyhistidine tag; Met 1-Thr 529 (AAD13932.1)
ExpressionSystem: Baculovirus-Insect Cells
Conjugation: Unconjugated
Full Name: hexosaminidase subunit alpha
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