Molecular Classification
Enzyme, Glycosyl hydrolase family 20
Other Names
Hexosaminidase, β-hexosaminidase, Hex A (for the alpha subunit), Hex B (for the beta subunit), N-acetyl-beta-glucosaminidase, beta-N-Acetylhexosaminidase
Disease Roles
Neurodegenerative disease (Tay–Sachs disease, Sandhoff disease)

Beta-hexosaminidase Overview

The term "β-Hexosaminidase release pathway" is not a canonical name for a molecular target. The correct molecular entity is beta‑hexosaminidase, an enzyme complex found primarily in lysosomes. It consists mainly of two subunits—alpha (encoded by HEXA) and beta (encoded by HEXB)—which combine to form active isoenzymes such as hexosaminidases A (α/β heterodimer) and B (β/β homodimer). These enzymes catalyze the hydrolysis of terminal N-acetyl-D‑hexosamine residues from glycoproteins, glycolipids, and especially GM2 ganglioside. Deficiency or dysfunction due to genetic mutations leads to severe neurodegenerative disorders known as GM2 gangliosidoses—most notably Tay–Sachs disease (HEXA mutations) and Sandhoff disease (HEXB mutations)[1][2][3]. There are no approved small-molecule drugs that directly modulate this enzyme; current therapeutic research focuses on gene therapy or enzyme replacement strategies. Note: The phrase "β-Hexosaminidase release pathway" is not standard nomenclature for a druggable target but rather refers broadly to cellular processes involving this lysosomal enzyme's function or measurement. For structured data purposes, use "Beta‑hexosaminidase" as the canonical name instead. If you need information about specific isoforms ("Beta‑hexosaminidase A", "Beta‑hexosaminidase B"), these can be further specified based on context.

Mechanism of Action

Restoration or replacement of enzyme activity to reduce substrate accumulation in lysosomal storage disorders

Biological Functions

Lysosomal degradation of GM2 ganglioside and other glycolipids
Hydrolysis of terminal N-acetyl-D-hexosamine residues in glycoproteins and glycolipids

Disease Associations

Neurodegenerative disease (Tay–Sachs disease, Sandhoff disease)

Safety Considerations

  • Enzyme replacement/gene therapy may trigger immune responses; off-target effects possible with gene editing approaches

Interacting Drugs

No approved drugs directly target beta-hexosaminidase; experimental gene therapies are under investigation for related diseases

Associated Biomarkers

Biomarker
Beta-hexosaminidase A and B activity levels in blood or tissue for diagnosis/monitoring of Tay–Sachs and Sandhoff diseases