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FLASH GENE
Symbol NAGLU contributors: mct/npt - updated : 26-06-2009
HGNC name N-acetylglucosaminidase, alpha-
HGNC id 7632
Corresponding disease
MPS3B mucopolysaccharidosis, type IIIB
Location 17q21.31      Physical location : 40.687.950 - 40.696.464
Synonym name
  • N-acetylglucosaminidase, alpha- (Sanfilippo disease IIIB)
  • alpha-N-acetylglucosaminidase 82 kDa form
  • alpha-N-acetylglucosaminidase 77 kDa form
  • MPS IIIB
  • Synonym symbol(s) NAG, UFHSD, UFHSD1, MPS3B, MPS-IIIB
    EC.number 3.2.1.50
    DNA
    TYPE functioning gene
    STRUCTURE 8.52 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    regionally located in the upstream flanking region of 17-beta hydroxysteroid dehydrogenase gene (HSD17B1)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2798 86 743 - Weber (2001)
    - - - 79 - - Weber (2001)
    differ from variant 1 in its glycosylation pattern
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
     stomach   highly
    Endocrineadrenal gland   highly
    Nervousnervecranial nerve  highly
    Reproductivefemale systemovary  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    six potential glycosylation sites
    conjugated GlycoP
    isoforms Precursor mature form 73kDa
    HOMOLOGY
    interspecies ortholog to murine Naglu (84 pc)
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text present in the extracellular matrix (Ronceret 2008)
    basic FUNCTION
  • acetyl-glucosaminidase, alpha-N, catalyzing the fifth step of degradation of glycosaminoglycans (mucopolysaccharides)
  • acting on heparan sulfate
  • complex polymer containing glucosamine and N-acetyl-glucosamine residues (Ronceret 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) MPS3B
    related resource Mucopolysaccharidosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target immune responses contribute greatly to the neuropathology of MPS3B and should be considered as an adjunct treatment in future therapeutic developments for optimal therapeutic effect (DiRosario 2009)
    ANIMAL & CELL MODELS
    in mouse model of MPS III B, neurons and microglia display the characteristic vacuolation of lysosomal storage of undegraded substrate, but neurons in the medial entorhinal cortex (MEC) display accumulation of several additional substances (OHMI 2009)