HEXA (Hexosaminidase A) is the functional enzyme and encoded by the HEXA gene. The main function of this enzyme is the hydroxylation of the gangliosides.
The mutation in this gene leads to the lysosomal storage disease. The GM2 starts accumulating in the lysosomes and causes Tay Sach's disease. This is a genetic disorder that leads to the breakdown of the cells of the spinal cord and the brain.
<span>When a complete set (genome) of chromosome is added or subtracted the condition is called Euploidy. When there is addition or deletion of a single member chromosome the condition is called Aneuploidy.</span>
