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FLASH GENE
Symbol XYLT2 contributors: mct - updated : 01-07-2015
HGNC name xylosyltransferase II
HGNC id 15517
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