Human Beta-hexosaminidase subunit beta (HEXB) ELISA Kit | HEXB elisa kit
Human Beta-hexosaminidase subunit beta (HEXB) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). [provided by RefSeq, Jul 2008]
Uniprot Description
HEXB: Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. Defects in HEXB are the cause of GM2-gangliosidosis type 2 (GM2G2); also known as Sandhoff disease. GM2- gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2G2 is clinically indistinguishable from GM2- gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula. Belongs to the glycosyl hydrolase 20 family.
Protein type: Glycan Metabolism - glycosphingolipid biosynthesis - globo series; Hydrolase; Glycan Metabolism - other glycan degradation; Carbohydrate Metabolism - amino sugar and nucleotide sugar; Glycan Metabolism - glycosaminoglycan degradation; EC 3.2.1.52; Glycan Metabolism - glycosphingolipid biosynthesis - ganglio series
Chromosomal Location of Human Ortholog: 5q13
Cellular Component: lysosomal lumen; membrane; acrosome
Molecular Function: protein homodimerization activity; protein heterodimerization activity; beta-N-acetylhexosaminidase activity
Biological Process: keratan sulfate metabolic process; myelination; oogenesis; male courtship behavior; glycosaminoglycan metabolic process; ganglioside catabolic process; locomotory behavior; pathogenesis; hyaluronan catabolic process; regulation of cell shape; oligosaccharide catabolic process; sequestering of lipid; sensory perception of sound; chondroitin sulfate catabolic process; penetration of zona pellucida; keratan sulfate catabolic process; neuromuscular process controlling balance; skeletal development; sphingolipid metabolic process; phospholipid biosynthetic process; chondroitin sulfate metabolic process; cellular calcium ion homeostasis; cellular protein metabolic process; lysosome organization and biogenesis; carbohydrate metabolic process; positive regulation of transcription from RNA polymerase II promoter; glycosphingolipid metabolic process; hyaluronan metabolic process; astrocyte cell migration
Disease: Sandhoff Disease
Research Articles on HEXB
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Product Notes
The Human HEXB hexb (Catalog #AAA9318384) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9318384 ELISA Kit recognizes Human HEXB. It is sometimes possible for the material contained within the vial of "Beta-hexosaminidase subunit beta (HEXB), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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