| Description |
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is also known as NARC1 (neural apoptosis regulated convertase), is a newly identified subtilase belonging to the peptidase S8 subfamily. Mouse PCSK9 is synthesized as a soluble zymogen, and undergoes autocatalytic intramolecular processing in the endoplasmic reticulum, resulting in the cleavage of its propeptide that remains associated with the secreted active enzyme with a broad alkaline pH optimum. 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). |
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