Rabbit polyclonal antibody to Hexb (S516)

Hexosaminidase B (HEXB), also designated beta~hexosaminidase B, is a Hexosaminidase B (HEXB), also designated b~hexosaminidase B, is a tetramer of two b~A and two b~B chains and is found in the lysosomes of cells. Sandhoff disease (SD), also known as GM2~gangliosidosis type II, is caused by mutations in the HEXB gene that affect the b subunit. These mutations disrupt the activity of HEXB and HEXA, which prevents the breakdown of GM2 ganglioside, a fatty material found in the brain, therby rendering both the HEXA and HEXB enzymes deficient. SD is a rare autosomal recessive disorder characterized by an accumulation of GM2 ganglioside, which causes progressive destruction of the central nervous system. Sandhoff disease is similar to Tay~Sachs disease, which is caused by mutations in the HEXA gene, although SD is more severe.