Anti-HEXA antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

The HEXA gene codes for the enzyme Hexosaminidase A also known as hexosaminidase alpha or HEXA subunit. This enzyme has several subunits with a molecular mass of approximately 58 kDa. HEXA expresses in various tissues but it shows high expression in the brain and other neural tissues. Mechanically Hexosaminidase A is involved in the hydrolysis of GM2 gangliosides into GM3 by removing the N-acetylgalactosamine residue which plays a role in the degradation of glycolipids within lysosomes.

Biological function summary

Hexosaminidase A functions as part of the lysosomal enzyme complex partnering with the GM2 activator protein and another related enzyme Hexosaminidase B. The complex is critical in the catabolism of GM2 gangliosides a type of lipid found in cell membranes specifically in neuronal cell membranes. Efficient function of Hexosaminidase A prevents accumulation of the lipid ensuring cellular health particularly in neurons.

Pathways

Hexosaminidase A is significant within glycolipid metabolism pathways and lysosomal degradation pathways. It cooperates closely with enzymes like Hexosaminidase B and the GM2 activator protein within these processes. These pathways are important for the breakdown of gangliosides which prevents their accumulation and maintains cellular function in neuronal tissues.

Associated diseases and disorders

HEXA mutations have a direct link to Tay-Sachs disease a severe genetic disorder affecting nerve cells. This disorder results from HEXA mutations causing deficient enzyme activity leading to GM2 ganglioside accumulation. Additionally Sandhoff disease links through similar pathways though its relation more involves Hexosaminidase B deficiencies. Both disorders highlight the importance of a functioning Hexosaminidase A enzyme for normal neurological function.