Hexosaminidase Domain Containing Protein (HEXDC)

HEXDC belongs to the glycosyl hydrolase 20 family. It has hexosaminidase activity and catalyses the hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. There are 2 named isoforms produced by alternative splicing. Hexosaminidase is an enzyme involved in the hydrolysis of terminal N-acetyl-D-hexosamine residues in N-acetyl-β-D-hexosaminides.There are numerous mutations that lead to hexosaminidase deficiency including gene deletions, nonsense mutations, and missense mutations. Tay-Sachs disease occurs when hexosaminidase A loses its ability to function. People with Tay-Sachs disease are unable to remove the GalNAc residue from the GM2 ganglioside, and as a result, they end up storing 100 to 1000 times more GM2 gangliosides in the brain than the normal person.