HEXA Rabbit Polyclonal Antibody
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Other products for "HEXA"
Specifications
Product Data | |
Applications | IHC, WB |
Recommended Dilution | WB: 500-2000 WB positive control: Jurakt and Hela cell lysates IHC: 50-200 Positive control: Human tonsil Predicted cell location: Cytoplasm |
Reactivities | Human, Mouse, Rat |
Host | Rabbit |
Isotype | IgG |
Clonality | Polyclonal |
Immunogen | Fusion protein of human HEXA |
Formulation | pH7.4 PBS, 0.05% NaN3, 40% Glycerol |
Concentration | lot specific |
Purification | Antigen affinity purification |
Conjugation | Unconjugated |
Storage | Store at -20°C. |
Stability | 1 year |
Predicted Protein Size | 61 kDa |
Database Link | |
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. |
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