Aliases:This biomarker is also known as:
- hypercholesterolemia, autosomal dominant 3,
- proprotein convertase subtilisin/kexin type 9,
- Neural apoptosis-regulated convertase 1,
- Proprotein convertase 9,
- Proprotein convertase subtilisin/kexin type 9,
PCSK9 is a proprotein convertase belonging to the proteinase K subfamily of the secretory subtilase family. PCSK9 is synthesized as a soluble zymogen that undergoes autocatalytic intramolecular processing in the endoplasmic reticulum. It may function as a proprotein convertase, play a role in cholesterol homeostasis, and have a role in the differentiation of cortical neurons. PCSK9 activity is inhibited by EGTA. PCSK9 is expressed in neuro-epithelioma, colon carcinoma, hepatic and pancreatic cell lines, and in Schwann cells. Mutations in the PCSK9 gene have been associated with a third form of autosomal dominant familial hypercholesterolemia.
|QA State:||Under Review|
There are no datasets associated with this biomarker.