Beta-Hexosaminidase Subunit Alpha (HEXA) ELISA Kit for Mouse

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 adult (late onset). Belongs to the glycosyl hydrolase 20 family.

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

Cellular Component: azurophil granule; lysosome; membrane

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

Biological Process: adult walking behavior; carbohydrate metabolic process; ganglioside catabolic process; glycosaminoglycan biosynthetic process; glycosaminoglycan metabolic process; locomotory behavior; lysosome organization and biogenesis; metabolic process; myelination; neuromuscular process controlling balance; neuromuscular process controlling posture; neuron morphogenesis during differentiation; sensory perception of sound; sequestering of lipid; sexual reproduction; skeletal development