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FLASH GENE
Symbol EXTL2 contributors: mct - updated : 28-02-2014
HGNC name exostoses (multiple)-like 2
HGNC id 3516
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • alpha 1.4-N acetylglucosaminyltransferase 1 and alpha GLCNac transferase activity
  • HOMOLOGY
    intraspecies paralog to EXTL1,EXTL3
    Homologene
    FAMILY
  • glycosyltransferase 47 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • alpha 1,4-N-acetylglusaminyltransferase
  • transferring N-acetylgalactosamine to the common glycosaminoglycan protein linkage region most likely critical for the initiation of thesynthesis of heparin/heparan sulfate, upward EXT1 and EXT2
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    biosynthesis of heparan sulfates
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    metabolismmucopolysaccharide 
    gene silencing of EXTL2 and EXTL3 are a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses
    ANIMAL & CELL MODELS