This gene encodes a proprotein convertase belonging to the proteinase K subfamily of the secretory subtilase family. The encoded protein is synthesized as a soluble zymogen that undergoes autocatalytic intramolecular processing in the endoplasmic reticulum. The protein may function as a proprotein convertase. This protein plays a role in cholesterol homeostasis and may have a role in the differentiation of cortical neurons. Mutations in this gene have been associated with a third form of autosomal dominant familial hypercholesterolemia .
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Protein Aliases: convertase subtilisin; convertase subtilisin/kexin type 9 preproprotein; NARC-1; neural apoptosis regulated convertase 1; Neural apoptosis-regulated convertase 1; PC9; Proprotein convertase 9; proprotein convertase PC9; Proprotein convertase subtilisin/kexin type 9; Subtilisin/kexin-like protease PC9
Gene Aliases: AI415265; AI747682; FH3; HCHOLA3; LDLCQ1; NARC-1; NARC1; PC9; PCSK9; PSEC0052