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FLASH GENE
Symbol GNS contributors: - updated : 06-12-2005
HGNC name glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID)
HGNC id 4422
Corresponding disease
MPS3D mucopolysaccharidosis, type IIID
Location 12q14      Physical location : 65.107.223 - 65.153.226
Synonym symbol(s) G6S
EC.number 3.1.6.14
DNA
TYPE functioning gene
STRUCTURE 43.00 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Map cen - D12S83 - D12S1086 - D12S334 - D12S1655 - D12S1834 - D12S1726 - (D12S1293 ,D12S1150E ,D12S1165E ) - D12S862 - D12S1437 - (D12S329 ,D12S2035 ) - D12S1230E - (D12S1022 ,D12S371 ) - D12S1831 - D12S1535 - D12S1232E - D12S1610 - D12S1548 - GNS - D12S1585 - (D12S1414 ,D12S1211E ,D12S1189E ) - D12S1649- D12S1426 - D12S1954 - D12S288 - D12S1461 - (D12S1601 ,D12S1464 ) - qter
Authors 4st Workshop chrom.12 (97)
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen    
Digestiveliver    
Endocrinepancreas    
Nervousbrain    
Reproductivefemale systembreastmammary gland  
 female systemuterus   
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoietic    
Connectivebone   
Connectivecartilage   
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Lymphoid    
Nervouscentral   
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticplatelet
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer homomer , tetramer
HOMOLOGY
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
intracellular,cytoplasm,organelle,Golgi
intracellular,cytoplasm,organelle,endosome
intracellular,cytoplasm,organelle,lysosome
basic FUNCTION
  • N-acetyl-glucosamine-6-sulfate sulfatase, lysosomal, acting on hydrolasesulfate
  • catalyzing the third step of degradation of keratan sulfate (mucopolysaccharides)
    • 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) MPS3D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS