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GENATLAS PHENOTYPE
last update : 25-03-2013
Symbol SIAFT
Location 9p13.3
Name sialuria, French type
Corresponding gene GNE
Main clinical features
  • characterized by mildly coarse facies, slight motor delay and urinary excretion of large quantities of free N-acetylneuraminic acid
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/lysosomal
    Type disease
    Gene product
    Name UDP-N-acetylglucosamine-2-epimerase
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     affecting allosteric sites and leading to a loss of inhibition of the enzyme by cytidine monophosphate-N-acetylneuraminic acid
    Remark(s)