HEXB
Description
The HEXB gene provides instructions for making an enzyme called beta-hexosaminidase A. This enzyme plays a crucial role in breaking down a type of fat called GM2 ganglioside. GM2 ganglioside is a complex molecule found in brain and nerve cells. When HEXB is missing or defective, GM2 ganglioside accumulates in the brain and other tissues, leading to severe neurological damage. This is the basis of Tay-Sachs disease, a rare and devastating genetic disorder.
Associated Diseases
Did you know?
Tay-Sachs disease is most common in people of Ashkenazi Jewish descent.
