Label:
Tay-Sachs
Description:
Mutations in the HEX A gene cause a disorder called Tay-Sachs, where a person's nerve cells deteriorate and finally die. The HEX A protein is necessary in the breakdown of large molecules called GM2 gangliosides, which are used to make nerve cell membranes. If the HEX A protein is missing or not functioning well, the GM2 gangliosides build up and become toxic to the nerve cell.
gene name: HEX A
Location: chromosome 15
Biological elements:
Tay-Sachs
Concepts precesses:
Tay-Sachs
Tools & methods :