HEXA antibodies are essential tools in studying Tay-Sachs disease, a rare inherited neurodegenerative disorder caused by mutations in the *HEXA* gene. This gene encodes the alpha subunit of β-hexosaminidase A (HexA), a lysosomal enzyme responsible for degrading GM2 gangliosides in neuronal cells. Defective HexA activity leads to toxic accumulation of GM2. causing progressive neurological deterioration, typically fatal in early childhood.
HEXA antibodies are primarily used in research and diagnostics to detect HexA protein expression, assess mutations' functional impact, and investigate disease mechanisms. In clinical settings, they aid in confirming reduced HexA enzyme levels in suspected Tay-Sachs cases, complementing genetic testing. Researchers also employ these antibodies in Western blotting, immunohistochemistry, or ELISA to study cellular models, animal studies, or therapeutic interventions like enzyme replacement or gene therapy.
Additionally, HEXA antibodies contribute to understanding HexA’s structural biology and interactions with cofactors like the GM2 activator protein. Their development has been pivotal in advancing carrier screening programs and exploring substrate reduction therapies. Despite Tay-Sachs' rarity, studying HexA remains critical for insights into lysosomal storage disorders and neurogenetic diseases. Overall, HEXA antibodies serve as vital reagents bridging basic science, translational research, and clinical diagnostics in this field.
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