HEXA, Blocking Peptide

Beta-hexosaminidase subunit alpha; Beta-N-acetylhexosaminidase subunit alpha; Hexosaminidase subunit A; N-acetyl-beta-glucosaminidase subunit alpha; HEXA

For Research Use Only. Not for use in diagnostic procedures.

The synthetic peptide sequence used to generate the antibody was selected from the Center region of human HEXA. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay.

Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Small volumes of HEXA blocking peptide vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

19,326 Da

hexosaminidase subunit alpha

beta-hexosaminidase subunit alpha

Beta-hexosaminidase subunit alpha

Hexosaminidase subunit A  [Similar Products]

HEXA_HUMAN

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]

HEXA: 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. Defects in HEXA are the cause of GM2-gangliosidosis type 1 (GM2G1); also known as Tay-Sachs disease. GM2- gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2G1 is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. GM2G1 has an increased incidence among Ashkenazi Jews and French Canadians in eastern Quebec. It exists in several forms: infantile (most common and most severe), juvenile and ***** (late onset). Belongs to the glycosyl hydrolase 20 family.

Protein type: Hydrolase; Glycan Metabolism - other glycan degradation; Glycan Metabolism - glycosphingolipid biosynthesis - globo series; Glycan Metabolism - glycosphingolipid biosynthesis - ganglio series; Carbohydrate Metabolism - amino sugar and nucleotide sugar; Glycan Metabolism - glycosaminoglycan degradation; EC 3.2.1.52

Chromosomal Location of Human Ortholog: 15q24.1

Cellular Component: azurophil granule; lysosomal lumen; membrane

Molecular Function: acetylglucosaminyltransferase activity; beta-N-acetylhexosaminidase activity; protein heterodimerization activity

Biological Process: chondroitin sulfate catabolic process; glycosaminoglycan biosynthetic process; glycosphingolipid metabolic process; hyaluronan catabolic process; keratan sulfate catabolic process

Disease: Tay-sachs Disease

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