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GENATLAS PHENOTYPE
last update : 18/10/2008
Symbol HCHOLA3
Location 1p34.1-p32
Name hypercholesterolemia A3
Corresponding gene PCSK9
Other symbol(s) FH3
Main clinical features
  • a selective increase of LDL particles in plasma giving rise to tendon and skin xanthomas, arcus corneae and premature mortality from cardiovascular complications, non LDLR, non APOB
    • Genetic determination autosomal dominant
    Function/system disorder metabolism/lipoprotein-lipid
    Type disease
    Gene product
    Name proprotein convertase subtilisin/kexin type 9
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function  
    Remark(s)
    Genotype/Phenotype correlations
  • loss-of-function PCSK9 mutant alleles had extremely low but detectable plasma apo B and LDL-cholesterol