[1][2][3][4] Elevated levels of hexosaminidase in blood and/or urine have been proposed as a biomarker of relapse in the treatment of alcoholism.

β-Hexosaminidase and the cofactor GM2 activator protein catalyze the degradation of the GM2 gangliosides and other molecules containing terminal N-acetyl hexosamines.

An aspartate residue (α Asp-322/β Asp-354) positions the C2-acetamindo group so that it can be attacked by the nucleophile (N-acetamido oxygen atom on carbon 1 of the substrate).

The aspartate residue stabilizes the positive charge on the nitrogen atom in the oxazolinium ion intermediate.

[11] The most common mutation, which occurs in over 80 percent of Tay–Sachs patients, results from a four base pair addition (TATC) in exon 11 of the Hex A gene.

The stable dimer conformation of hexosaminidase A has the ability to leave the endoplasmic reticulum and is directed to the lysosome where it can perform the degradation of GM2 gangliosides.