4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
hexosaminidase activitybeta-N-acetylhexosaminidase activityextracellular vesiclecytoplasmplacenta praeviaplacental retentionasthmarheumatoid arthritis
HEXD (hexosaminidase D) is a nucleocytoplasmic β-hexosaminidase enzyme that catalyzes the hydrolytic cleavage of N-acetylglucosamine (GlcNAc) and N-acetylgalactosamine (GalNAc) monosaccharides from cellular glycoconjugate substrates 1. The enzyme demonstrates a preference for galactosaminide over glucosaminide substrates 1. Mechanistically, HEXD operates as a retaining glycosidase utilizing a substrate-assisted catalytic mechanism, with critical catalytic residues including Asp148 (polarizing residue) and Glu149 (general acid/base) 1. The enzyme exhibits optimal activity at pH 6.5-7.0 and is inhibited by Gal-NAG-thiazoline (Ki = 420 nM) 1. HEXD possesses a conserved glutamate residue characteristic of human hexosaminidases, positioning it within the broader GH20 glycosyl hydrolase family involved in glycoconjugate metabolism 2. Despite its well-characterized enzymatic mechanism, the physiological role and disease relevance of HEXD remain elusive 1. Further investigation is needed to establish its specific cellular functions and potential clinical significance in glycoprotein and glycolipid degradation pathways.
1
HEXD mechanism: retaining glycosidase with substrate-assisted catalysis, preference for galactosaminides, pH optimum 6.5-7.0, catalytic residues Asp148 and Glu149, inhibition by Gal-NAG-thiazoline
PMID: 271492212
HEXD belongs to GH20 glycosyl hydrolase family involved in glycoconjugate metabolism; possesses conserved glutamate residue characteristic of human hexosaminidases; biological function remains elusive
PMID: 39058279⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
placenta praeviaOpen Targets
placental retentionOpen Targets
rheumatoid arthritisOpen Targets
Tay-Sachs diseaseOpen Targets
multiple sclerosisOpen Targets
Sandhoff diseaseOpen Targets
inflammatory bowel diseaseOpen Targets
GM2 gangliosidosisOpen Targets
cirrhosis of liverOpen Targets
colonic neoplasmOpen Targets
focal dystoniaOpen Targets
type 1 diabetes mellitusOpen Targets
post-traumatic stress disorderOpen Targets
hyperinsulinemic hypoglycemia, familial, 4Open Targets
Alzheimer diseaseOpen Targets
chronic kidney diseaseOpen Targets
depressive disorderOpen Targets
No pathogenic variants reported on ClinVar for this gene.