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GENATLAS PHENOTYPE
last update : 18/10/2008
Symbol FDB
Location 2p24.1
Name familial defective apolipoprotein B100
Other name(s) hypercholesterolemia type B
Corresponding gene APOB
Main clinical features hypercholesterolemia and premature atherosclerosis
Genetic determination autosomal dominant
Function/system disorder metabolism/lipoprotein-lipid
Type disease
Gene product
Name apolipoprotein B (APOB)
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
missense     R3500Q mutation(Arg -> Gln)
Remark(s)