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What type of mutation is involved in Tay Sachs disease 2024?
Mutations
gene Tay
Questioner:Benjamin Collins 2023-04-20 19:12:06
The most authoritative answer in 2024
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Julian Anderson——Works at the International Fund for Agricultural Development, Lives in Rome, Italy.
Mutations in the HEXA
gene cause
Tay-
Sachs disease. The HEXA
gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. ... Within lysosomes, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside.
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