Also known as
FH3, FHCL3, HCHOLA3, LDLCQ1, NARC-1, NARC1, PC9
PCSK9 is a gene that encodes a protein called proprotein convertase subtilisin/kexin type 9. This protein plays a role in regulating cholesterol levels in the blood by controlling the levels of low-density lipoprotein (LDL) receptors on the surface of cells. LDL receptors help to remove LDL cholesterol from the blood, and when PCSK9 levels are high, there are fewer LDL receptors available to do this, leading to higher levels of LDL cholesterol in the blood. Mutations in the PCSK9 gene can cause a range of cholesterol-related conditions, including familial hypercholesterolemia, which is characterized by high levels of LDL cholesterol. Inhibitors of PCSK9 are used as a cholesterol-lowering therapy.
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