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FLASH GENE
Symbol XYLT2 contributors: mct - updated : 01-07-2015
HGNC name xylosyltransferase II
HGNC id 15517
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer monomer
HOMOLOGY
interspecies homolog to rattus Xylt2
intraspecies homolog to XYLT1
Homologene
FAMILY glycosyltransferase family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,endoplasmic reticulum
intracellular,cytoplasm,organelle,Golgi
basic FUNCTION
  • initiating biosynthesis of chondroitin and heparan sulfate, heparin and dermatan sulfate
  • transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate
  • is capable of initiating the biosynthesis of glycosaminoglycan chains in proteoglycans
  • XYLT1, XYLT2 are xylosyltransferases with similar but not identical properties, pointing to their potential role in modulating the cellular proteoglycan pool
  • very likely assumes a crucial regulatory role in the biosynthesis of proteoglycans (PGs)
  • XYLT1, XYLT2 catalyze the rate-limiting step in proteoglycan biosynthesis
  • cells of the lens, retina, heart muscle, inner ear, and bone are dependent on XYLT2 for proteoglycan assembly
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    chondroitin sulfate and heparan sulfate synthesis, first step
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    divalent cations
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) COOD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in scleroderma
    constitutional       loss of function
    results in a substantial reduction in proteoglycans and a phenotype characteristic of many aspects of polycystic liver and kidney disease, including biliary epithelial cysts, renal tubule dilation, organ fibrosis, and basement membrane abnormalities
    Susceptibility
  • to severe pseudoxanthoma elasticum (PXE)
  • to nephropathy in diabetic patients
  • Variant & Polymorphism SNP , other
  • increasing frequency in patients under 30 years of age at diagnosis of PXE, and with severe disease course
  • SNP protecting against nephropathy in diabetic patients
  • Candidate gene
    Marker
  • serum XYLT2 levels may be an informative biomarker in patients who suffer from diseases affecting platelet and/or liver homeostasis
  • Therapy target
    ANIMAL & CELL MODELS
    Xylt2
    /
    mice develop normally, but develop liver biliary epithelial cysts, renal tubule dilation/cysts, and decreased renal function