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GENATLAS PHENOTYPE
last update : 31-03-2009
Symbol CD36D
Location 7q21.11
Name CD36 deficiency
Other name(s) platelets glycoprotein IV deficiency
Corresponding gene CD36
Other symbol(s) CD36
Main clinical features
  • no expression at cell surface of platelets isolated (type II) or associated with a deficiency in monocytes/macrophages (type I)
  • reduced fatty acid utilisation and an attenuated aerobic exercise capacity
    • Genetic determination
    Function/system disorder hematology
    Type disease
    Gene product
    Name CD36 antigen
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     mutation 478 C>T in 50p100 of the cases
    Remark(s)