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Literature summary extracted from

  • Yogalingam, G.; Luu, A.R.; Prill, H.; Lo, M.J.; Yip, B.; Holtzinger, J.; Christianson, T.; Aoyagi-Scharber, M.; Lawrence, R.; Crawford, B.E.; LeBowitz, J.H.
    BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different patterns of cellular uptake into critical cell types of Sanfilippo syndrome B disease pathogenesis (2019), PLoS ONE, 14, e0207836 .
    View publication on PubMedView publication on EuropePMC

Application

EC Number Application Comment Organism
3.2.1.50 medicine a minimum threshold of about 20% of wild type residual enzyme activity levels is required to completely prevent accumulation of heparan sulfate in Sanfilippo syndrome type B patient fibroblasts. BMN 250 cellular uptake under very limiting and transient exposure conditions occurs in sufficient amounts to reach this threshold Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
3.2.1.50 expressed in CHO cells Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
3.2.1.50 lysosome
-
 Homo sapiens 5764
-

Organism

EC Number Organism UniProt Comment Textmining
3.2.1.50 Homo sapiens P54802
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
3.2.1.50 microglia
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.2.1.50 4-methylumbelliferyl N-acetyl-alpha-D-glucosaminide + H2O
-
 Homo sapiens 4-methylumbelliferone + N-acetyl-alpha-D-glucosamine
-
 ?

Synonyms

EC Number Synonyms Comment Organism
3.2.1.50 BMN 250 tralesinidase alfa, a fusion protein of lysosomal alpha-N-acetylglucosaminidase with insulin-like growth factor 2 Homo sapiens
3.2.1.50 NAGLU
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
3.2.1.50 malfunction enzyme mutations cause the Sanfilippo B syndrome which leads to severe neurodegenerative disease and early death Homo sapiens