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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 mutation	Chromosome rearrangement	Effect	Comments
missense			R3500Q mutation(Arg -> Gln)

Remark(s)