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Target intelligence / Profile preview
Beta-hexosaminidase subunit beta (HEXB)
- Target
- HEXB
- Molecular classification
- Enzyme, Glycosyl hydrolase
01
Overview
Beta-hexosaminidase subunit beta is an enzyme encoded by the HEXB gene in humans. This protein serves as a critical component of two related enzymes: beta-hexosaminidase A and beta-hexosaminidase B. These enzymes play essential roles in cellular metabolism, particularly within the nervous system, catalyzing the degradation of GM2 ganglioside and other complex molecules within lysosomes. Mutations in the HEXB gene are associated with Sandhoff Disease and Motor Neuron Disease.
- Other names
- HCC-7N-acetyl-beta-glucosaminidase subunit betaBeta-N-acetylhexosaminidase subunit betaCervical cancer proto-oncogene 7 proteinEpididymis luminal protein 248Epididymis secretory protein Li 111
02
Biological functions
CatalysisLysosomal degradationSphingolipid catabolismOligosaccharide catabolismGlycoprotein processingHydrolysis
03
Disease associations
Sandhoff Disease (GM2-gangliosidosis type II)Motor Neuron Disease
04
Safety considerations
Neurodegeneration due to accumulation of GM2 ganglioside in Sandhoff Disease
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