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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.
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