HEXA Rabbit anti-Human, Mouse, Rat, Polyclonal, Proteintech

Beschreibung

The antibody, 11317-1-AP, can recognize both alpha and beta subunit of beta-hexosaminidase. The mature alpha subunit is composed of a major 54 kDa polypeptide and a minor 6 kDa polypeptide. The mature beta-subunit originates from its precursor by two prot

This gene encodes the alpha 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. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I).