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alpha-N-acetylglucosaminidase; N-acetyl-alpha-glucosaminidase; NAG (NAGLU, UFHSD1)
Function:
1) degradation of heparan sulfate
2) hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides
Structure: monomer & homodimer
Compartment: lysosome
Expression:
- expressed in liver, ovary, peripheral blood leukocytes, testis, prostrate, spleen, colon, lung, placenta, kidney
Pathology:
- defects in NAGLU are the cause of mucopolysaccharidosis 3B
Laboratory:
- alpha-N-acetylglucosaminidase in fibroblasts
- alpha-N-acetylglucosaminidase in leukocytes
- alpha-N-acetylglucosaminidase in tissue
- alpha-N-acetylglucosaminidase in serum/plasma
- alpha-N-acetylglucosaminidase in urine
Related
Sanfillipo B syndrome; mucopolysaccharidosis 3B
General
glucosaminidase
glycoprotein
Properties
SIZE: entity length = 743 aa
MW = 82 kD
COMPARTMENT: lysosome
MOTIF: signal sequence {1-23}
glycine-rich region {68-71}
alanine-rich region {84-87}
MOTIF: alanine residue (SEVERAL)
N-glycosylation site {N261}
N-glycosylation site {N272}
N-glycosylation site {N435}
N-glycosylation site {N503}
N-glycosylation site {N526}
N-glycosylation site {N532}
Database Correlations
OMIM correlations
MORBIDMAP 609701
UniProt P54802
PFAM correlations
Entrez Gene 4669
KEGG correlations
ENZYME 3.2.1.50
References
- UniProt :accession P54802
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/NAGLU