HEXA
HEXA is a gene that provides instructions for producing the alpha subunit of the enzyme beta-hexosaminidase A. This enzyme plays a critical role in the nervous system. It is located in lysosomes, which are compartments within cells that break down and recycle different types of molecules. Beta-hexosaminidase A is involved in the degradation of a fatty substance called GM2 ganglioside.
Function[edit | edit source]
The HEXA gene provides instructions for making a protein that combines with another protein (produced from the HEXB gene) to form beta-hexosaminidase A. This enzyme plays a critical role in the brain and spinal cord (central nervous system). Beta-hexosaminidase A is located in lysosomes, which are compartments within cells that break down and recycle different types of molecules.
Clinical significance[edit | edit source]
Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, preventing the enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. This ongoing accumulation leads to the destruction of these cells, which likely contributes to the neurological problems seen in Tay-Sachs disease.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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