Hexosaminidase B Beta (HEXbeta) ELISA Kit for Pigeon

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: Hydrolase; Glycan Metabolism - other glycan degradation; Glycan Metabolism - glycosaminoglycan degradation; Carbohydrate Metabolism - amino sugar and nucleotide sugar; EC 3.2.1.52; Glycan Metabolism - glycosphingolipid biosynthesis - globo series; 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: male courtship behavior; oogenesis; myelination; keratan sulfate metabolic process; glycosaminoglycan metabolic process; ganglioside catabolic process; locomotory behavior; pathogenesis; hyaluronan catabolic process; regulation of cell shape; sequestering of lipid; oligosaccharide catabolic process; 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; cellular calcium ion homeostasis; chondroitin sulfate metabolic process; cellular protein metabolic process; lysosome organization and biogenesis; carbohydrate metabolic process; glycosphingolipid metabolic process; positive regulation of transcription from RNA polymerase II promoter; hyaluronan metabolic process; astrocyte cell migration

Disease: Sandhoff Disease