Defective NAGLU does not hydrolyse heparan chain(2)

Stable Identifier
R-HSA-9036052
Type
Reaction [transition]
Species
Homo sapiens
Compartment
lysosomal lumen
ReviewStatus
5/5
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
Defective NAGLU does not hydrolyse heparan chain(2)
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout
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
11668611 Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

Yogalingam, G, Hopwood, JJ

Hum Mutat 2001
14984474 Sanfilippo B syndrome: molecular defects in Greek patients

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

Clin Genet 2004
9443875 Genotype-phenotype correspondence in Sanfilippo syndrome type B

Zhao, HG, Aronovich, EL, Whitley, CB

Am J Hum Genet 1998
Participants
Input
Participates
as an event of
Catalyst Activity

alpha-N-acetylglucosaminidase activity of NAGLU mutants [lysosomal lumen]

Physical Entity
NAGLU mutants [lysosomal lumen] (Homo sapiens)
Activity
alpha-N-acetylglucosaminidase activity (GO:0004561)
Normal reaction
NAGLU hydrolyses heparan chain(2) (Homo sapiens)
Functional status

Loss of function of NAGLU mutants [lysosomal lumen]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
mucopolysaccharidosis III DOID: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
Cross References
Mondo
Authored
Jassal, B  (2012-05-21)
Reviewed
Coutinho, MF  (2012-08-27)
Alves, S  (2012-08-27)
Matos, L  (2012-08-27)
Created
Jassal, B  (2012-05-21)
Cite Us!