PCSK9 Antibody – Rabbit

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 (HCHOLA3). [provided by RefSeq]

Function: May be implicated in the differentiation of cortical neurons and may play a role in cholesterol homeostasis.

Cofactor: Calcium

Probable.

Enzyme regulation: Inhibited by EGTA.

Subunit structure: The precursor protein but not the mature protein may form multimers.

Subcellular location: Secreted.

Tissue specificity: Expressed in neuro-epithelioma, colon carcinoma, hepatic and pancreatic cell lines, and in Schwann cells.

Post-translational modification: The soluble zymogen undergoes autocatalytic intramolecular processing in the endoplasmic reticulum, resulting in the cleavage of its propeptide that remains associated with the secreted enzyme.

Polymorphism: Variant Leu-23 ins polymorphism in PCSK9 might have a modifier effect on LDLR mutation and familial hypercholesterolemia.

Involvement in disease: Defects in PCSK9 are the cause of familial hypercholesterolemia 3 (FH3) [

MIM:603776]. FH3 inheritance is autosomal dominant. Ref.13

Sequence similarities: Belongs to the peptidase S8 family.Contains 1 peptidase S8 domain.

Sequence caution: The sequence BAC11572.1 differs from that shown. Reason: Frameshift at position 494.