Defective NAGLU does not hydrolyse heparan chain(2)

Stable Identifier
R-HSA-9036052
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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MPS IIIB (Sanfilippo syndrome B, Mucopolysaccharidosis IIIB, MIM:252920) is an autosomal recessive genetic disorder due to loss of function of alpha-N-acetylglucosaminidase (NAGLU; MIM:609701), normally involved in the hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in heparan and heparan sulfate (HS). Mutations that cause severe forms of MPSIIIB are R674C or H (Zhao et al. 1998), R297X (Yogalingam & Hopwood 2001, Zhao et al. 1998) and R626X (Beesley et al 2004).

Literature References
PubMed ID Title Journal Year
14984474 Sanfilippo B syndrome: molecular defects in Greek patients

Beesley, C, Moraitou, M, Winchester, B, Schulpis, K, Dimitriou, E, Michelakakis, H

Clin Genet 2004
11668611 Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

Yogalingam, G, Hopwood, JJ

Hum Mutat 2001
9443875 Genotype-phenotype correspondence in Sanfilippo syndrome type B

Zhao, HG, Aronovich, EL, Whitley, CB

Am J Hum Genet 1998
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
alpha-N-acetylglucosaminidase activity of NAGLU mutants [lysosomal lumen]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
mucopolysaccharidosis III 12801 Sanfilippo's syndrome, SANFILIPPO SYNDROME B, N-sulphoglucosamine sulphohydrolase deficiency, Sanfilippo's syndrome, mucopolysaccharidosis type IIIB, NAGLU DEFICIENCY, mucopolysaccharidosis type IIIA, Mucopolysaccharidosis, MPS-III, Mucopolysaccharidosis, MPS-III-B (disorder), mucopolysaccharidosis III, SANFILIPPO SYNDROME A, N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY, HEPARAN SULFATE SULFATASE DEFICIENCY, mucopolysaccharidosis type III
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