Hexosaminidase B Antibody / HEXB

Hexosaminidase B (HEXB), also designated beta-hexosaminidase B, is a hexosaminidase B (HEXB), also designated beta-hexosaminidase B, is a tetramer of two beta-A and two beta-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 beta 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.