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FLASH GENE
Symbol IDUA contributors: mct - updated : 14-11-2012
HGNC name iduronidase, alpha-L-
HGNC id 5391
Corresponding disease
MPS1 mucopolysaccharidosis, type I
Location 4p16.3      Physical location : 980.784 - 998.316
Synonym symbol(s) D4S111, IDA
EC.number 3.2.1.76
DNA
TYPE functioning gene
STRUCTURE 17.53 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Map pter - D4S169 - D4S142 - D4S90 - D4S232 - IDUA - D4S115 - D4S168 - cen
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 2203 - 653 - 2008 18340403
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
Connectivecartilage  highly
cells
SystemCellPubmedSpeciesStageRna symbol
 digestive
Blood/Hematopoieticleukocyte
Digestivehepatocyte
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated GlycoP
mono polymer monomer
HOMOLOGY
interspecies ortholog to murine Idua
Homologene
FAMILY
  • glycosyl hydrolase 39 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • iduronidase, alpha-L, hydrolyzing dermatan sulfate, heparan sulfate
  • catalyzing the second step of degradation of glucosaminoglycans (mucopolysaccharides)
  • playing a role in the hydrolysis of unsulfated alpha-L-iduronosidic linkages in dermatan sulfate
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    disaccharide metabolism
    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) MPS1
    related resource Mucopolysaccharidosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • substantial elevation in heparan sulfate (HS) within the liver and brain of Idua -/- mice and significant changes in HS localization and sulfation patterning with significant increases in N-, 6-O-, and 2-O-sulfation