Molecular Classification
Enzyme
Other Names
Beta-hexosaminidase, beta-N-Acetylhexosaminidase A, HEXA_HUMAN, hexosaminidase A (alpha polypeptide), N-acetyl-beta-glucosaminidase
Disease Roles
Neurodegenerative disease (Tay-Sachs disease, Sandhoff disease)

Beta-hexosaminidase A Overview

Beta‑hexosaminidase A is an enzyme found in lysosomes that plays a critical role in the central nervous system by breaking down GM2 ganglioside, a type of fatty substance present in cell membranes. The enzyme consists of two subunits—an alpha subunit encoded by the HEXA gene and a beta subunit encoded by the HEXB gene. Deficiency or dysfunction of this enzyme results in the accumulation of GM2 ganglioside, leading to severe neurodegenerative diseases such as Tay-Sachs and Sandhoff diseases. These conditions are characterized by progressive neurological decline due to toxic buildup within neurons. Measurement of beta‑hexosaminidase activity serves as an important biomarker for diagnosing these disorders[1][2][3].

Mechanism of Action

Biological Functions

Lysosomal degradation of GM2 ganglioside and other glycolipids

Disease Associations

Neurodegenerative disease (Tay-Sachs disease, Sandhoff disease)

Safety Considerations

  • Deficiency leads to toxic accumulation of GM2 ganglioside in neurons, causing neurodegeneration (not a therapeutic target but a clinical concern)

Associated Biomarkers

Biomarker
Reduced or absent beta-hexosaminidase A activity is a diagnostic biomarker for Tay-Sachs disease and Sandhoff disease