Beta-Hexosaminidase Subunit Beta (HEXB) ELISA Kit for Rat

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). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

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

Chromosomal Location of Human Ortholog: 5q13

Cellular Component: acrosome; azurophil granule; lysosomal lumen; membrane

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

Biological Process: astrocyte cell migration; carbohydrate metabolic process; cellular calcium ion homeostasis; cellular protein metabolic process; chondroitin sulfate catabolic process; chondroitin sulfate metabolic process; ganglioside catabolic process; glycosaminoglycan metabolic process; glycosphingolipid metabolic process; hyaluronan catabolic process; hyaluronan metabolic process; keratan sulfate catabolic process; keratan sulfate metabolic process; locomotory behavior; lysosome organization and biogenesis; male courtship behavior; myelination; neuromuscular process controlling balance; oligosaccharide catabolic process; oogenesis; penetration of zona pellucida; phospholipid biosynthetic process; positive regulation of transcription from RNA polymerase II promoter; regulation of cell shape; sensory perception of sound; sequestering of lipid; skeletal development; sphingolipid metabolic process

Disease: Sandhoff Disease