Human Beta-Hexosaminidase Subunit Alpha (HEXA) Protein

Product specifications

Proteins and Peptides

Beta-Hexosaminidase Subunit Alpha (HEXA)

E. coli

Optimal dilutions/concentrations should be determined by the end user.

Human

Recombinant

> 85% (SDS-PAGE)

5 µg

20 µg

1 mg

Liquid

SDS-PAGE

Shipped within 5-10 working days.

Store at 4 °C if the entire vial will be used within 2-4 weeks. Store at -20 °C for long term storage. For long term storage, it is recommended to add a carrier protein (0.1% HSA or BSA). Avoid repeated freeze/thaw cycles.

No

P06865

N-acetyl-beta-glucosaminidase subunit alpha,TSD

Protein HEXA

RUO

This product is for research use only.   Not for human consumption, cosmetic, therapeutic or diagnostic use.

Descripción

HEXA is the alpha subunit of the beta-hexosaminidase enzyme, a lysosomal hydrolase that catalyzes the breakdown of GM2 gangliosides into GM3 in the process of glycosphingolipid degradation The enzyme functions as a heterodimer composed of alpha and beta subunits, encoded by the HEXA and HEXB genes respectively Mutations in HEXA lead to Tay-Sachs disease, an autosomal recessive lysosomal storage disorder characterized by the accumulation of GM2 gangliosides in neuronal cells, resulting in neurodegeneration, progressive motor weakness, and developmental delay HEXA is highly active in neuronal tissues where glycosphingolipid metabolism is critical for normal brain function The absence or dysfunction of HEXA causes a loss of enzymatic activity leading to cellular toxicity and apoptosis Current therapeutic approaches include enzyme replacement therapy, substrate reduction therapy, and gene therapy to restore HEXA activity and slow disease progression

Related Products

HEXA antibody

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.

Ver Producto

Mouse Beta-Hexosaminidase Subunit Alpha (HEXA) ELISA Kit

Mouse Beta-Hexosaminidase Subunit Alpha (HEXA) ELISA Kit is an ELISA Kit for the in vitro quantitative measurement of Mouse beta hexosaminidase A concentrations in serum, plasma, tissue homogenates, cell lysates and other biological fluids.

Ver Producto

Human Beta-Hexosaminidase Subunit Alpha (HEXA) Protein (Active)

Human Hexosaminidase A Protein is a recombinant protein from Human produced in Baculovirus-Insect Cells. A DNA sequence encoding the human HEXA (AAD13932.1) (Met 1-Thr 529) was fused with a polyhistidine tag at the C-terminus.

Ver Producto