Hexosaminidase D (HEXD)

Hexosaminidase D (HEXD) is an enzyme belonging to the glycosyl hydrolase family 20, expressed in humans and predicted to function primarily in the hydrolysis of terminal N-acetylglucosamine (GlcNAc) and N-acetylgalactosamine (GalNAc) residues from cellular substrates, with a preference for galactosaminide. HEXD is related to but distinct from the lysosomal hexosaminidases A (HEXA) and B (HEXB), which are well-characterized in the context of lysosomal storage diseases such as Tay-Sachs and Sandhoff. HEXD is encoded by the HEXD gene (HGNC:26307) and is found in extracellular vesicles. The biological function of HEXD remains less well defined than HEXA/B, but it is considered a candidate for involvement in carbohydrate metabolic pathways and, by homology, lysosomal storage disorders. There are no approved drugs or therapies that specifically target HEXD, and it is not a routinely used disease biomarker.

Other names

Hexosaminidase DHEXDCFLJ23825Beta-N-acetylhexosaminidaseBeta-hexosaminidase DHexosaminidase domain-containing proteinN-acetyl-beta-galactosaminidasehexosaminidase D, cytosolichexosaminidase Dbeta-N-acetylhexosaminidasebeta-hexosaminidase Dhexosaminidase domain-containing protein