Families

Human DNA is composed of different genes that have the information to produce different proteins. One such gene is GM2A that encodes GM2 activator protein located on chromosome 5 q arm.

Every cell in the human body has different enzymes that help to break down complex molecules into simple substances. One such enzyme hexosaminidase-A, along with a cofactor- GM2 activator protein is involved in breaking down the substrate molecule called GM2 ganglioside. Individuals with GM2 activator deficiency have a defective cofactor. Hence, there is no functional enzyme activity, ultimately causing build-up of the substrate in different cells. This causes manifestation of the disease condition.