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FLASH GENE
Symbol NAGLU contributors: mct/npt - updated : 26-06-2009
HGNC name N-acetylglucosaminidase, alpha-
HGNC id 7632
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)