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GeneE
4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HEXD
hexosaminidase D
Chromosome 17 · 17q25.3
NCBI Gene: 284004Ensembl: ENSG00000169660.18HGNC: HGNC:26307UniProt: Q8WVB3
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
hexosaminidase activitybeta-N-acetylhexosaminidase activityextracellular vesiclecytoplasmplacenta praeviaplacental retentionasthmarheumatoid arthritis
✦AI Summary

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.

Sources cited
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: 27149221
2
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.
Disease Associationsⓘ20
placenta praeviaOpen Targets
0.02Suggestive
placental retentionOpen Targets
0.02Suggestive
asthmaOpen Targets
0.02Suggestive
rheumatoid arthritisOpen Targets
0.02Suggestive
Tay-Sachs diseaseOpen Targets
0.01Suggestive
multiple sclerosisOpen Targets
0.01Suggestive
Sandhoff diseaseOpen Targets
0.01Suggestive
inflammatory bowel diseaseOpen Targets
0.01Suggestive
GM2 gangliosidosisOpen Targets
0.01Suggestive
carcinomaOpen Targets
0.01Suggestive
cirrhosis of liverOpen Targets
0.01Suggestive
colonic neoplasmOpen Targets
0.01Suggestive
focal dystoniaOpen Targets
0.01Suggestive
type 1 diabetes mellitusOpen Targets
0.01Suggestive
post-traumatic stress disorderOpen Targets
0.01Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
depressive disorderOpen Targets
0.00Suggestive
tuberculosisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ABOShared pathway100%AMY2BShared pathway100%LCTShared pathway100%SIShared pathway100%TPD52L2Shared pathway100%B4GALT3Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Liver
91%
Lung
50%
Bone Marrow
21%
Heart
16%
Brain
14%
Gene Interaction Network
Click a node to explore
HEXDABOAMY2BLCTSITPD52L2B4GALT3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WVB3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.22LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.95 [0.74–1.22]
RankingsWhere HEXD stands among ~20K protein-coding genes
  • #15,889of 20,598
    Most Researched14
  • #12,832of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedHEXD
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Mechanism of Human Nucleocytoplasmic Hexosaminidase D.
PMID: 27149221
Biochemistry · 2016
1.00
2
Bioinformatic, Enzymatic, and Structural Characterization of
PMID: 39058279
Biochemistry · 2024
0.75
3
An ultra-broad-range pressure sensor based on a gradient stiffness design.
PMID: 34846430
Mater Horiz · 2021
0.50
4
Development and application of hair matrix reference materials for the determination of morphine, cocaine, 3,4-methylenedioxymethamphetamine, methamphetamine, and their metabolites.
PMID: 41175528
Forensic Sci Int · 2026
0.25