PCSK9

Proprotein convertase subtilisin/kexin type 9 (PCSK9), is an enzyme which in humans is encoded by the PCSK9 gene.This gene encodes a proprotein convertase belonging to the proteinase K subfamily of the secretory subtilase family. This protein plays a major regulatory role in cholesterol homeostasis. PCSK9 binds to the epidermal growth factor-like repeat A (EGF-A) domain of the low-density lipoprotein receptor (LDLR), inducing LDLR degradation. PCSK9 may also have a role in the differentiation of cortical neurons. Mutations in this gene have been associated with a rare form of autosomal dominant familial hypercholesterolemia (HCHOLA3).