EC Number   |
General Information |
Reference |
|---|
   3.2.1.50 | malfunction |
a large homozygous intragenic deletion in the alpha-N-acetylglucosaminidase gene, causing enzyme deficiency, is involved in the autosomal recessive disease Sanfilippo type B syndrome, i.e. mucopolysaccharidosis IIIB, in an affected child of consanguineous parents |
709965 |
| 3.2.1.50 | malfunction |
alpha-N-acetylglucosaminidase is a key enzyme in the pathogenesis of Sanfilippo syndrome B |
751421 |
| 3.2.1.50 | malfunction |
enzyme mutations cause the Sanfilippo B syndrome which leads to severe neurodegenerative disease and early death |
751986 |
| 3.2.1.50 | physiological function |
enzyme acts as specific glycosidase required for degrading alpha-GlcNAc-capped O-glycans of the class III mucin secreted from the stomach and duodenum. The agnC gene-disrupted strain shows significantly reduced growth on the class III mucin-containing medium compared with the wild type strain |
-, 715655 |
| 3.2.1.50 | physiological function |
the enzyme is important for assimilation of gastroduodenal mucin by Bacillus bifidum and also applicable to production of prebiotic oligosaccharides from porcine gastric mucin |
749725 |
