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GENATLAS PHENOTYPE
last update : 17-05-2022
Symbol CETPD
Location 16q13
Name cholesteryl ester transfer protein deficiency
Other name(s) CETP deficiency
Corresponding gene CETP
Main clinical features
  • elevated levels of alpha-lipoprotein, but no xanthomata or vascular or neurologic disease
  • possible defect in the transfer of labeled cholesteryl ester from HDL to VLDL plus LDL
    • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder metabolism/lipoprotein-lipid
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     intron 14 splice mutation and D442G are frequent mutations in Japanese population
    Remark(s)