Hexosaminidase B Beta (HEXb) Antibody – Rabbit Polyclonal

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

Chromosomal Location of Human Ortholog: 13 D1|13 50.66 cM

Cellular Component: acrosomal vesicle; azurophil granule; extracellular space; lysosome; membrane

Molecular Function: acetylglucosaminyltransferase activity; beta-N-acetylglucosaminidase activity; beta-N-acetylhexosaminidase activity; carbohydrate binding; hexosaminidase activity; hydrolase activity; hydrolase activity, acting on glycosyl bonds; hydrolase activity, hydrolyzing O-glycosyl compounds; protein heterodimerization activity; protein homodimerization activity

Biological Process: astrocyte cell migration; carbohydrate metabolic process; cellular calcium ion homeostasis; cellular protein metabolic process; ganglioside catabolic process; glycosaminoglycan metabolic process; glycosphingolipid metabolic process; lipid storage; locomotory behavior; lysosome organization and biogenesis; male courtship behavior; metabolic process; myelination; N-acetylglucosamine metabolic process; neuromuscular process; 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; regulation of cellular metabolic process; sensory perception of sound; sexual reproduction; single fertilization; skeletal system development