RESUMO
Familial hypercholesterolemia(FH) is a common autosomal dominant dyslipidemia,which is caused by mutations of the low-density lipoprotein receptor(LDLR) gene producing defect or deficiency in LDLR.The characters of FH are elevated level of total and LDL cholesterol.FH is considered to be a complex polygenic disease.Recently,more findings indicate that proprotein convertase subtilisin/kexin type 9(PCSK9) gene play an important role in serum cholesterol metabolism.Some mutated PCSK9 proteins decrease LDLR,which cause FH in affected families.Some other mutated PCSK9 proteins decrease self-affinity,which cause hypocholesterolemia.We review the newest researches about the structure,function ofPCSK9 gene and the relation of its mutations with plasma cholesterol metabolism.