Analysis of PCSK9 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0111-LGZ)

Introduction

Also known as: FH3; PC9; FHCL3; NARC1; LDLCQ1; NARC-1; HCHOLA3<br />This gene encodes a member of the subtilis-like protein convertase family, which includes proteases that process the trafficking of protein and peptide precursors through the regulatory or constitutive branches of the secretory pathway. The encoded protein undergoes autocatalytic processing events with its prosegment in the endoplasmic reticulum and is constitutively secreted into the extracellular matrix and trans-Golgi network as an inactive protease. It is expressed in liver, intestinal and kidney tissues and provides escorts to specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene are associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants.