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N-acetyl-alpha-D-glucosaminidase
- Molecular classification
- Enzyme, Glycosidase, Hydrolase
01
Overview
N-acetyl-alpha-D-glucosaminidase is a lysosomal enzyme involved in the degradation of heparan sulfate, a glycosaminoglycan component of the extracellular matrix and cell surfaces. Deficiency or dysfunction of this enzyme leads to Mucopolysaccharidosis type IIIB (MPS IIIB), also known as Sanfilippo syndrome B, a rare autosomal recessive lysosomal storage disorder characterized by progressive neurodegeneration and accumulation of heparan sulfate in tissues.
- Other names
- α-N-acetylglucosaminidaseAlpha-N-acetylglucosaminidaseN-acetyl-α-D-glucosaminidaseN-acetyl-α-glucosaminidaseα-D-2-acetamido-2-deoxyglucosidase
02
Biological functions
Lysosomal degradation of heparan sulfateHydrolysis of terminal non-reducing N-acetyl-D-glucosamine residuesGlycosaminoglycan catabolism
03
Disease associations
Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B)Lysosomal storage disorderNeurodegenerative disease
04
Safety considerations
Progressive neurodegenerationDevelopmental delayBehavioral problems
05
Biomarkers
Enzyme activity in blood plasma or cultured fibroblasts
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